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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1800470

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:41353016 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.426828 (112977/264690, TOPMED)
A=0.48524 (13708/28250, 14KJPN)
G=0.49551 (8931/18024, ALFA) (+ 15 more)
A=0.48627 (8146/16752, 8.3KJPN)
G=0.4547 (2277/5008, 1000G)
G=0.4020 (1801/4480, Estonian)
G=0.3778 (1456/3854, ALSPAC)
G=0.3706 (1374/3708, TWINSUK)
G=0.4897 (1433/2926, KOREAN)
G=0.1259 (246/1954, PharmGKB)
G=0.4887 (866/1772, Korea1K)
G=0.342 (205/600, NorthernSweden)
G=0.315 (133/422, SGDP_PRJ)
G=0.435 (94/216, Qatari)
A=0.393 (84/214, Vietnamese)
G=0.37 (22/60, Ancient Sardinia)
G=0.22 (11/50, Siberian)
G=0.23 (9/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TGFB1 : Missense Variant
Publications
246 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 18024 G=0.49551 A=0.50449, C=0.00000 0.275078 0.284066 0.440857 32
European Sub 13932 G=0.47538 A=0.52462, C=0.00000 0.249785 0.299024 0.451192 34
African Sub 1194 G=0.6683 A=0.3317, C=0.0000 0.512563 0.175879 0.311558 28
African Others Sub 30 G=0.63 A=0.37, C=0.00 0.533333 0.266667 0.2 3
African American Sub 1164 G=0.6692 A=0.3308, C=0.0000 0.512027 0.17354 0.314433 26
Asian Sub 90 G=0.63 A=0.37, C=0.00 0.444444 0.177778 0.377778 1
East Asian Sub 52 G=0.75 A=0.25, C=0.00 0.576923 0.076923 0.346154 0
Other Asian Sub 38 G=0.47 A=0.53, C=0.00 0.263158 0.315789 0.421053 0
Latin American 1 Sub 36 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 176 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 20 G=0.95 A=0.05, C=0.00 0.9 0.0 0.1 0
Other Sub 2576 G=0.4744 A=0.5256, C=0.0000 0.231366 0.282609 0.486025 1


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.426828 A=0.573172
14KJPN JAPANESE Study-wide 28250 G=0.51476 A=0.48524
Allele Frequency Aggregator Total Global 18024 G=0.49551 A=0.50449, C=0.00000
Allele Frequency Aggregator European Sub 13932 G=0.47538 A=0.52462, C=0.00000
Allele Frequency Aggregator Other Sub 2576 G=0.4744 A=0.5256, C=0.0000
Allele Frequency Aggregator African Sub 1194 G=0.6683 A=0.3317, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 176 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 90 G=0.63 A=0.37, C=0.00
Allele Frequency Aggregator Latin American 1 Sub 36 G=1.00 A=0.00, C=0.00
Allele Frequency Aggregator South Asian Sub 20 G=0.95 A=0.05, C=0.00
8.3KJPN JAPANESE Study-wide 16752 G=0.51373 A=0.48627
1000Genomes Global Study-wide 5008 G=0.4547 A=0.5453
1000Genomes African Sub 1322 G=0.4138 A=0.5862
1000Genomes East Asian Sub 1008 G=0.5546 A=0.4454
1000Genomes Europe Sub 1006 G=0.3817 A=0.6183
1000Genomes South Asian Sub 978 G=0.446 A=0.554
1000Genomes American Sub 694 G=0.506 A=0.494
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4020 A=0.5980
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3778 A=0.6222
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3706 A=0.6294
KOREAN population from KRGDB KOREAN Study-wide 2926 G=0.4897 A=0.5103, C=0.0000
PharmGKB Aggregated Global Study-wide 1954 G=0.1259 A=0.8741
PharmGKB Aggregated PA137106788 Sub 1402 G=0.1583 A=0.8417
PharmGKB Aggregated PA136358528 Sub 552 G=0.043 A=0.957
Korean Genome Project KOREAN Study-wide 1772 G=0.4887 A=0.5113
Northern Sweden ACPOP Study-wide 600 G=0.342 A=0.658
SGDP_PRJ Global Study-wide 422 G=0.315 A=0.685
Qatari Global Study-wide 216 G=0.435 A=0.565
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.607 A=0.393
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 G=0.37 A=0.63
Siberian Global Study-wide 50 G=0.22 A=0.78
The Danish reference pan genome Danish Study-wide 40 G=0.23 A=0.78
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 19 NC_000019.10:g.41353016G>A
GRCh38.p14 chr 19 NC_000019.10:g.41353016G>C
GRCh37.p13 chr 19 NC_000019.9:g.41858921G>A
GRCh37.p13 chr 19 NC_000019.9:g.41858921G>C
TGFB1 RefSeqGene NG_013364.1:g.5911C>T
TGFB1 RefSeqGene NG_013364.1:g.5911C>G
B9D2 RefSeqGene NG_013091.1:g.16158C>T
B9D2 RefSeqGene NG_013091.1:g.16158C>G
Gene: TGFB1, transforming growth factor beta 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TGFB1 transcript NM_000660.7:c.29C>T P [CCG] > L [CTG] Coding Sequence Variant
transforming growth factor beta-1 proprotein preproprotein NP_000651.3:p.Pro10Leu P (Pro) > L (Leu) Missense Variant
TGFB1 transcript NM_000660.7:c.29C>G P [CCG] > R [CGG] Coding Sequence Variant
transforming growth factor beta-1 proprotein preproprotein NP_000651.3:p.Pro10Arg P (Pro) > R (Arg) Missense Variant
TGFB1 transcript variant X1 XM_011527242.3:c.29C>T P [CCG] > L [CTG] Coding Sequence Variant
transforming growth factor beta-1 proprotein isoform X1 XP_011525544.1:p.Pro10Leu P (Pro) > L (Leu) Missense Variant
TGFB1 transcript variant X1 XM_011527242.3:c.29C>G P [CCG] > R [CGG] Coding Sequence Variant
transforming growth factor beta-1 proprotein isoform X1 XP_011525544.1:p.Pro10Arg P (Pro) > R (Arg) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 27573 )
ClinVar Accession Disease Names Clinical Significance
RCV000013360.28 Cystic fibrosis Risk-Factor
RCV000013361.5 Breast cancer, invasive, susceptibility to Risk-Factor
RCV000242872.7 not specified Benign
RCV001516678.6 not provided Benign
RCV001838525.4 Diaphyseal dysplasia Benign
RCV001838526.4 Inflammatory bowel disease, immunodeficiency, and encephalopathy Benign
Allele: C (allele ID: 1391340 )
ClinVar Accession Disease Names Clinical Significance
RCV001977572.3 not provided Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C
GRCh38.p14 chr 19 NC_000019.10:g.41353016= NC_000019.10:g.41353016G>A NC_000019.10:g.41353016G>C
GRCh37.p13 chr 19 NC_000019.9:g.41858921= NC_000019.9:g.41858921G>A NC_000019.9:g.41858921G>C
TGFB1 RefSeqGene NG_013364.1:g.5911= NG_013364.1:g.5911C>T NG_013364.1:g.5911C>G
TGFB1 transcript NM_000660.7:c.29= NM_000660.7:c.29C>T NM_000660.7:c.29C>G
TGFB1 transcript NM_000660.6:c.29= NM_000660.6:c.29C>T NM_000660.6:c.29C>G
TGFB1 transcript NM_000660.5:c.29= NM_000660.5:c.29C>T NM_000660.5:c.29C>G
TGFB1 transcript NM_000660.4:c.29= NM_000660.4:c.29C>T NM_000660.4:c.29C>G
B9D2 RefSeqGene NG_013091.1:g.16158= NG_013091.1:g.16158C>T NG_013091.1:g.16158C>G
TGFB1 transcript variant X1 XM_011527242.3:c.29= XM_011527242.3:c.29C>T XM_011527242.3:c.29C>G
TGFB1 transcript variant X1 XM_011527242.2:c.29= XM_011527242.2:c.29C>T XM_011527242.2:c.29C>G
TGFB1 transcript variant X1 XM_011527242.1:c.29= XM_011527242.1:c.29C>T XM_011527242.1:c.29C>G
transforming growth factor beta-1 proprotein preproprotein NP_000651.3:p.Pro10= NP_000651.3:p.Pro10Leu NP_000651.3:p.Pro10Arg
transforming growth factor beta-1 proprotein isoform X1 XP_011525544.1:p.Pro10= XP_011525544.1:p.Pro10Leu XP_011525544.1:p.Pro10Arg
TMEM91 transcript variant X1 XM_005259150.1:c.-30+1814= XM_005259150.1:c.-30+1814G>A XM_005259150.1:c.-30+1814G>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

114 SubSNP, 24 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2887365 Jan 12, 2001 (130)
2 YUSUKE ss4931303 Aug 28, 2002 (130)
3 SNP500CANCER ss6903961 Mar 31, 2003 (130)
4 IIPGA-WEISS-MARTINEZ ss15356536 Feb 27, 2004 (130)
5 CGAP-GAI ss16252304 Feb 27, 2004 (130)
6 CSHL-HAPMAP ss19401773 Feb 27, 2004 (130)
7 SSAHASNP ss21551244 Apr 05, 2004 (130)
8 IMCJ-GDT ss22887843 Apr 05, 2004 (130)
9 MGC_GENOME_DIFF ss28503569 Sep 24, 2004 (130)
10 MGC_GENOME_DIFF ss28503737 Sep 24, 2004 (130)
11 MGC_GENOME_DIFF ss28506278 Sep 24, 2004 (130)
12 APPLERA_GI ss48420192 Mar 11, 2006 (130)
13 CSHL-HAPMAP ss68397072 Jan 12, 2007 (130)
14 PERLEGEN ss69228628 May 16, 2007 (130)
15 PHARMGKB_PHAT ss69364812 May 16, 2007 (130)
16 SHGC ss71640514 May 16, 2007 (130)
17 CGM_KYOTO ss76869532 Dec 06, 2007 (129)
18 HGSV ss77187229 Dec 06, 2007 (129)
19 HGSV ss81939538 Dec 15, 2007 (130)
20 HGSV ss84475751 Dec 15, 2007 (130)
21 BCMHGSC_JDW ss90976636 Mar 24, 2008 (129)
22 CNG ss95211621 Mar 25, 2008 (129)
23 HUMANGENOME_JCVI ss96268013 Feb 06, 2009 (130)
24 PHARMGKB_PHAT ss105107318 Feb 06, 2009 (130)
25 ENSEMBL ss136262338 Dec 01, 2009 (131)
26 SEATTLESEQ ss159739879 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss168214574 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss169769675 Jul 04, 2010 (132)
29 BUSHMAN ss203757624 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss208488681 Jul 04, 2010 (132)
31 1000GENOMES ss228145083 Jul 14, 2010 (132)
32 1000GENOMES ss237681390 Jul 15, 2010 (132)
33 1000GENOMES ss243886509 Jul 15, 2010 (132)
34 RSG_JCVI ss262867509 May 09, 2011 (134)
35 PJP ss292179507 May 09, 2011 (134)
36 1000GENOMES ss491159835 May 04, 2012 (137)
37 GSK-GENETICS ss491256417 May 04, 2012 (137)
38 EXOME_CHIP ss491547796 May 04, 2012 (137)
39 GENEREVIEWS ss647514675 Dec 12, 2012 (137)
40 SSMP ss661855449 Apr 25, 2013 (138)
41 EVA-GONL ss994311931 Aug 21, 2014 (142)
42 1000GENOMES ss1363213135 Aug 21, 2014 (142)
43 DDI ss1428406247 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1578644485 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1637992060 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1680986093 Apr 01, 2015 (144)
47 EVA_EXAC ss1693622040 Apr 01, 2015 (144)
48 EVA_EXAC ss1693622041 Apr 01, 2015 (144)
49 EVA_DECODE ss1698365643 Apr 01, 2015 (144)
50 HAMMER_LAB ss1809313124 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1937805602 Feb 12, 2016 (147)
52 ILLUMINA ss1959865657 Feb 12, 2016 (147)
53 JJLAB ss2029682224 Sep 14, 2016 (149)
54 USC_VALOUEV ss2158223505 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2225848469 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2629338316 Nov 08, 2017 (151)
57 GRF ss2702834576 Nov 08, 2017 (151)
58 GNOMAD ss2744025440 Nov 08, 2017 (151)
59 GNOMAD ss2750197523 Nov 08, 2017 (151)
60 GNOMAD ss2963007435 Nov 08, 2017 (151)
61 SWEGEN ss3017493589 Nov 08, 2017 (151)
62 ILLUMINA ss3021907423 Nov 08, 2017 (151)
63 EVA_SAMSUNG_MC ss3023072178 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3028672639 Nov 08, 2017 (151)
65 CSHL ss3352308683 Nov 08, 2017 (151)
66 ILLUMINA ss3625742001 Oct 12, 2018 (152)
67 OMUKHERJEE_ADBS ss3646537238 Oct 12, 2018 (152)
68 URBANLAB ss3650920825 Oct 12, 2018 (152)
69 ILLUMINA ss3652333401 Oct 12, 2018 (152)
70 EGCUT_WGS ss3684256050 Jul 13, 2019 (153)
71 EVA_DECODE ss3702792459 Jul 13, 2019 (153)
72 ACPOP ss3743049935 Jul 13, 2019 (153)
73 EVA ss3756079237 Jul 13, 2019 (153)
74 KHV_HUMAN_GENOMES ss3821327050 Jul 13, 2019 (153)
75 EVA ss3825532952 Apr 27, 2020 (154)
76 EVA ss3825547408 Apr 27, 2020 (154)
77 EVA ss3825936862 Apr 27, 2020 (154)
78 EVA ss3835468324 Apr 27, 2020 (154)
79 EVA ss3841356533 Apr 27, 2020 (154)
80 EVA ss3846862470 Apr 27, 2020 (154)
81 SGDP_PRJ ss3888244021 Apr 27, 2020 (154)
82 KRGDB ss3938361950 Apr 27, 2020 (154)
83 KOGIC ss3981378597 Apr 27, 2020 (154)
84 FSA-LAB ss3984155159 Apr 26, 2021 (155)
85 EVA ss3985855195 Apr 26, 2021 (155)
86 EVA ss3986080914 Apr 26, 2021 (155)
87 EVA ss3986799185 Apr 26, 2021 (155)
88 TOPMED ss5075231687 Apr 26, 2021 (155)
89 TOMMO_GENOMICS ss5227819349 Apr 26, 2021 (155)
90 EVA ss5236961676 Apr 26, 2021 (155)
91 EVA ss5237247564 Apr 26, 2021 (155)
92 1000G_HIGH_COVERAGE ss5307292946 Oct 13, 2022 (156)
93 1000G_HIGH_COVERAGE ss5307292947 Oct 13, 2022 (156)
94 EVA ss5314388664 Oct 13, 2022 (156)
95 TRAN_CS_UWATERLOO ss5314453375 Oct 13, 2022 (156)
96 EVA ss5434918469 Oct 13, 2022 (156)
97 HUGCELL_USP ss5499810303 Oct 13, 2022 (156)
98 EVA ss5512106164 Oct 13, 2022 (156)
99 EVA ss5623978024 Oct 13, 2022 (156)
100 EVA ss5624090753 Oct 13, 2022 (156)
101 SANFORD_IMAGENETICS ss5624429157 Oct 13, 2022 (156)
102 TOMMO_GENOMICS ss5786472148 Oct 13, 2022 (156)
103 EVA ss5800223214 Oct 13, 2022 (156)
104 YY_MCH ss5817613309 Oct 13, 2022 (156)
105 EVA ss5840567316 Oct 13, 2022 (156)
106 EVA ss5847497326 Oct 13, 2022 (156)
107 EVA ss5848493676 Oct 13, 2022 (156)
108 EVA ss5852295179 Oct 13, 2022 (156)
109 EVA ss5928151367 Oct 13, 2022 (156)
110 EVA ss5936574091 Oct 13, 2022 (156)
111 EVA ss5953830361 Oct 13, 2022 (156)
112 EVA ss5979546880 Oct 13, 2022 (156)
113 EVA ss5981054591 Oct 13, 2022 (156)
114 EVA ss5981312711 Oct 13, 2022 (156)
115 1000Genomes NC_000019.9 - 41858921 Oct 12, 2018 (152)
116 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 41858921 Oct 12, 2018 (152)
117 Genetic variation in the Estonian population NC_000019.9 - 41858921 Oct 12, 2018 (152)
118 ExAC

Submission ignored due to conflicting rows:
Row 4127847 (NC_000019.9:41858920:G:G 5467/12490, NC_000019.9:41858920:G:A 7023/12490)
Row 4127848 (NC_000019.9:41858920:G:G 12482/12490, NC_000019.9:41858920:G:C 8/12490)

- Oct 12, 2018 (152)
119 ExAC

Submission ignored due to conflicting rows:
Row 4127847 (NC_000019.9:41858920:G:G 5467/12490, NC_000019.9:41858920:G:A 7023/12490)
Row 4127848 (NC_000019.9:41858920:G:G 12482/12490, NC_000019.9:41858920:G:C 8/12490)

- Oct 12, 2018 (152)
120 The Danish reference pan genome NC_000019.9 - 41858921 Apr 27, 2020 (154)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 540400667 (NC_000019.10:41353015:G:A 83006/139994)
Row 540400668 (NC_000019.10:41353015:G:C 0/140062)

- Apr 26, 2021 (155)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 540400667 (NC_000019.10:41353015:G:A 83006/139994)
Row 540400668 (NC_000019.10:41353015:G:C 0/140062)

- Apr 26, 2021 (155)
123 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 13339140 (NC_000019.9:41858920:G:G 58198/129938, NC_000019.9:41858920:G:A 71740/129938)
Row 13339141 (NC_000019.9:41858920:G:G 129907/129938, NC_000019.9:41858920:G:C 31/129938)

- Jul 13, 2019 (153)
124 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 13339140 (NC_000019.9:41858920:G:G 58198/129938, NC_000019.9:41858920:G:A 71740/129938)
Row 13339141 (NC_000019.9:41858920:G:G 129907/129938, NC_000019.9:41858920:G:C 31/129938)

- Jul 13, 2019 (153)
125 KOREAN population from KRGDB NC_000019.9 - 41858921 Apr 27, 2020 (154)
126 Korean Genome Project NC_000019.10 - 41353016 Apr 27, 2020 (154)
127 Northern Sweden NC_000019.9 - 41858921 Jul 13, 2019 (153)
128 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000019.9 - 41858921 Apr 26, 2021 (155)
129 PharmGKB Aggregated NC_000019.10 - 41353016 Apr 27, 2020 (154)
130 Qatari NC_000019.9 - 41858921 Apr 27, 2020 (154)
131 SGDP_PRJ NC_000019.9 - 41858921 Apr 27, 2020 (154)
132 Siberian NC_000019.9 - 41858921 Apr 27, 2020 (154)
133 8.3KJPN NC_000019.9 - 41858921 Apr 26, 2021 (155)
134 14KJPN NC_000019.10 - 41353016 Oct 13, 2022 (156)
135 TopMed NC_000019.10 - 41353016 Apr 26, 2021 (155)
136 UK 10K study - Twins NC_000019.9 - 41858921 Oct 12, 2018 (152)
137 A Vietnamese Genetic Variation Database NC_000019.9 - 41858921 Jul 13, 2019 (153)
138 ALFA NC_000019.10 - 41353016 Apr 26, 2021 (155)
139 ClinVar RCV000013360.28 Oct 13, 2022 (156)
140 ClinVar RCV000013361.5 Oct 13, 2022 (156)
141 ClinVar RCV000242872.7 Oct 13, 2022 (156)
142 ClinVar RCV001516678.6 Oct 13, 2022 (156)
143 ClinVar RCV001838525.4 Oct 13, 2022 (156)
144 ClinVar RCV001838526.4 Oct 13, 2022 (156)
145 ClinVar RCV001977572.3 Oct 13, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs1982073 May 25, 2008 (130)
rs3745293 Oct 09, 2002 (108)
rs17849267 Mar 11, 2006 (126)
rs17849435 Mar 11, 2006 (126)
rs17851976 Mar 11, 2006 (126)
rs60195696 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77187229, ss81939538, ss84475751, ss90976636, ss168214574, ss169769675, ss203757624, ss208488681, ss292179507, ss491256417, ss1698365643 NC_000019.8:46550760:G:A NC_000019.10:41353015:G:A (self)
76622212, 42436742, 29994298, 4826772, 45539344, 16334800, 1081122, 19847524, 40261001, 10739859, 85788656, 42436742, 9373056, ss228145083, ss237681390, ss243886509, ss491159835, ss491547796, ss661855449, ss994311931, ss1363213135, ss1428406247, ss1578644485, ss1637992060, ss1680986093, ss1693622040, ss1809313124, ss1937805602, ss1959865657, ss2029682224, ss2158223505, ss2629338316, ss2702834576, ss2744025440, ss2750197523, ss2963007435, ss3017493589, ss3021907423, ss3023072178, ss3352308683, ss3625742001, ss3646537238, ss3652333401, ss3684256050, ss3743049935, ss3756079237, ss3825532952, ss3825547408, ss3825936862, ss3835468324, ss3841356533, ss3888244021, ss3938361950, ss3984155159, ss3985855195, ss3986080914, ss3986799185, ss5227819349, ss5434918469, ss5512106164, ss5623978024, ss5624090753, ss5624429157, ss5800223214, ss5840567316, ss5847497326, ss5848493676, ss5936574091, ss5953830361, ss5979546880, ss5981054591, ss5981312711 NC_000019.9:41858920:G:A NC_000019.10:41353015:G:A (self)
RCV000013360.28, RCV000013361.5, RCV000242872.7, RCV001516678.6, RCV001838525.4, RCV001838526.4, 37756598, 5788, 120309252, 290777351, 11853670856, ss647514675, ss2225848469, ss3028672639, ss3650920825, ss3702792459, ss3821327050, ss3846862470, ss3981378597, ss5075231687, ss5236961676, ss5237247564, ss5307292946, ss5314388664, ss5314453375, ss5499810303, ss5786472148, ss5817613309, ss5852295179, ss5928151367 NC_000019.10:41353015:G:A NC_000019.10:41353015:G:A (self)
ss19401773, ss21551244 NT_011109.15:14127138:G:A NC_000019.10:41353015:G:A (self)
ss2887365, ss4931303, ss6903961, ss15356536, ss16252304, ss22887843, ss28503569, ss28503737, ss28506278, ss48420192, ss68397072, ss69228628, ss69364812, ss71640514, ss76869532, ss95211621, ss96268013, ss105107318, ss136262338, ss159739879, ss262867509 NT_011109.16:14127138:G:A NC_000019.10:41353015:G:A (self)
45539344, ss1693622041, ss2744025440, ss3938361950 NC_000019.9:41858920:G:C NC_000019.10:41353015:G:C (self)
RCV001977572.3, 11853670856, ss5307292947 NC_000019.10:41353015:G:C NC_000019.10:41353015:G:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

246 citations for rs1800470
PMID Title Author Year Journal
15113441 Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. Sigurdson AJ et al. 2004 BMC cancer
15175276 The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Celedón JC et al. 2004 Human molecular genetics
16207846 Genetic modifiers of lung disease in cystic fibrosis. Drumm ML et al. 2005 The New England journal of medicine
16456143 Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. Hersh CP et al. 2006 American journal of respiratory and critical care medicine
16543493 Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart disease. Koch W et al. 2006 Arteriosclerosis, thrombosis, and vascular biology
16704031 Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans. Yoon HI et al. 2006 The international journal of tuberculosis and lung disease
16780585 Decorin and TGF-beta1 polymorphisms and development of COPD in a general population. van Diemen CC et al. 2006 Respiratory research
17054776 The genetics of chronic obstructive pulmonary disease. Wood AM et al. 2006 Respiratory research
17059371 Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women. McGuigan FE et al. 2007 Journal of bone and mineral research
17293864 A common coding variant in CASP8 is associated with breast cancer risk. Cox A et al. 2007 Nature genetics
17319955 Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy. McKnight AJ et al. 2007 BMC medical genetics
17333284 Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopy. Li H et al. 2007 Human genetics
17363767 Genetic determinants of emphysema distribution in the national emphysema treatment trial. DeMeo DL et al. 2007 American journal of respiratory and critical care medicine
17367212 Association between common variation in 120 candidate genes and breast cancer risk. Pharoah PD et al. 2007 PLoS genetics
17406643 Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13. Becker T et al. 2007 European journal of human genetics
17673695 Transforming growth factor- 1 C-509T polymorphism, oxidant stress, and early-onset childhood asthma. Salam MT et al. 2007 American journal of respiratory and critical care medicine
17940599 Assembly of inflammation-related genes for pathway-focused genetic analysis. Loza MJ et al. 2007 PloS one
18041006 Association of TGF-beta1 codon 25 (G915C) polymorphism with hepatitis C virus infection. Pereira FA et al. 2008 Journal of medical virology
18284942 Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study. Langdahl BL et al. 2008 Bone
18292811 Complex two-gene modulation of lung disease severity in children with cystic fibrosis. Dorfman R et al. 2008 The Journal of clinical investigation
18424453 Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Bremer LA et al. 2008 Human molecular genetics
18431743 Consortium analysis of 7 candidate SNPs for ovarian cancer. Ramus SJ et al. 2008 International journal of cancer
18640487 Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation. Israni AK et al. 2008 American journal of kidney diseases
18670143 The association of transforming growth factor beta 1 gene polymorphisms with the emphysema phenotype of COPD in Japanese. Ito M et al. 2008 Internal medicine (Tokyo, Japan)
18676870 Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China. Hsing AW et al. 2008 Cancer research
18685869 TGF-beta1 gene polymorphisms and primary vesicoureteral reflux in childhood. Kowalewska-Pietrzak M et al. 2008 Pediatric nephrology (Berlin, Germany)
18687755 Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population. Mahajan R et al. 2008 Japanese journal of clinical oncology
18936436 Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Chang MH et al. 2009 American journal of epidemiology
19004027 TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis. Castillejo A et al. 2009 International journal of cancer
19060265 High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes. Wang P et al. 2009 Investigative ophthalmology & visual science
19096005 Variants in TGFB1, dust mite exposure, and disease severity in children with asthma. Sharma S et al. 2009 American journal of respiratory and critical care medicine
19106168 Transforming growth factor-beta1 869T/C, but not interleukin-6 -174G/C, polymorphism associates with hypertension in rheumatoid arthritis. Panoulas VF et al. 2009 Rheumatology (Oxford, England)
19107437 Genetic polymorphisms in the transforming growth factor-beta signaling pathways and breast cancer risk and survival. Zheng W et al. 2009 Methods in molecular biology (Clifton, N.J.)
19258388 Genetic variation in the transforming growth factor-beta1 gene is associated with susceptibility to IgA nephropathy. Vuong MT et al. 2009 Nephrology, dialysis, transplantation
19260117 Association between transforming growth factor beta1 genetic polymorphism and response to chemoradiotherapy in head and neck squamous cell cancer. Lundberg M et al. 2009 Head & neck
19357773 Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians. Ahluwalia TS et al. 2009 PloS one
19365037 TGFB1 as a susceptibility gene for high myopia: a replication study with new findings. Zha Y et al. 2009 Archives of ophthalmology (Chicago, Ill.
19380441 Single nucleotide polymorphism at rs1982073:T869C of the TGFbeta 1 gene is associated with the risk of radiation pneumonitis in patients with non-small-cell lung cancer treated with definitive radiotherapy. Yuan X et al. 2009 Journal of clinical oncology
19566948 Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer. Guan X et al. 2009 Journal of experimental & clinical cancer research
19567509 Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes. Breyer JP et al. 2009 Cancer epidemiology, biomarkers & prevention
19710942 Sclera-related gene polymorphisms in high myopia. Lin HJ et al. 2009 Molecular vision
19745160 Trend tests for genetic association using population-based cross-sectional complex survey data. She D et al. 2010 Biostatistics (Oxford, England)
19835575 The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer. Guan X et al. 2009 BMC gastroenterology
19910030 Evaluation of candidate genes in a genome-wide association study of childhood asthma in Mexicans. Wu H et al. 2010 The Journal of allergy and clinical immunology
19933216 The COPD genetic association compendium: a comprehensive online database of COPD genetic associations. Castaldi PJ et al. 2010 Human molecular genetics
19951401 Chronic obstructive pulmonary disease: towards pharmacogenetics. Wood AM et al. 2009 Genome medicine
20096948 No association between SNPs regulating TGF-β1 secretion and late radiotherapy toxicity to the breast: results from the RAPPER study. Barnett GC et al. 2010 Radiotherapy and oncology
20100616 Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. Havasi V et al. 2010 Fertility and sterility
20233420 Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation. Cho MH et al. 2010 Respiratory research
20301335 Camurati-Engelmann Disease. Wallace SE et al. 1993 GeneReviews(®)
20308003 TGFbeta1 genetic polymorphism is associated with survival in head and neck squamous cell carcinoma independent of the severity of chemoradiotherapy induced mucositis. Lundberg M et al. 2010 Oral oncology
20332227 Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility. Nicoloso MS et al. 2010 Cancer research
20334523 Association between normal tissue complications after radiotherapy and polymorphic variations in TGFB1 and XRCC1 genes. Alsbeih G et al. 2010 Radiation research
20418110 Polymorphisms in cytokine genes and serum cytokine levels among New Mexican women with and without breast cancer. Erdei E et al. 2010 Cytokine
20473875 Association of haplotypes of inflammation-related genes with gastric preneoplastic lesions in African Americans and Caucasians. Zabaleta J et al. 2011 International journal of cancer
20479942 Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. Vuong MT et al. 2010 PloS one
20525719 Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD. Kim WJ et al. 2011 The European respiratory journal
20605201 Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Travis RC et al. 2010 Lancet (London, England)
20640597 Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China. Chen XH et al. 2011 Breast cancer research and treatment
20712888 Genotypes and haplotypes of the VEGF gene and survival in locally advanced non-small cell lung cancer patients treated with chemoradiotherapy. Guan X et al. 2010 BMC cancer
20843204 MicroRNA binding site polymorphisms as biomarkers of cancer risk. Pelletier C et al. 2010 Expert review of molecular diagnostics
20957429 Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. Comen E et al. 2011 Breast cancer research and treatment
20981351 Promoter Polymorphism of RGS2 Gene Is Associated with Change of Blood Pressure in Subjects with Antihypertensive Treatment: The Azelnidipine and Temocapril in Hypertensive Patients with Type 2 Diabetes Study. Sugimoto K et al. 2010 International journal of hypertension
21049069 Identification of Novel Susceptibility Genes for Breast Cancer - Genome-Wide Association Studies or Evaluation of Candidate Genes? Meindl A et al. 2009 Breast care (Basel, Switzerland)
21054877 Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. Ned RM et al. 2010 BMC medical genetics
21155761 Nature and nurture: the complex genetics of myopia and refractive error. Wojciechowski R et al. 2011 Clinical genetics
21194473 Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Milne RL et al. 2010 Breast cancer research
21320324 The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study. Chappell SL et al. 2011 BMC medical genetics
21332318 Identification of SNPs associated with susceptibility for development of adverse reactions to radiotherapy. Rosenstein BS et al. 2011 Pharmacogenomics
21333900 The role of genetics in IBS. Saito YA et al. 2011 Gastroenterology clinics of North America
21420246 Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. Yin M et al. 2011 International journal of radiation oncology, biology, physics
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
21527583 TGF-β signaling pathway and breast cancer susceptibility. Scollen S et al. 2011 Cancer epidemiology, biomarkers & prevention
21556788 Lack of association between the TGF-β(1) gene and development of COPD in Asians: a case-control study and meta-analysis. Gong Y et al. 2011 Lung
21596841 Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Broeks A et al. 2011 Human molecular genetics
21647442 Polymorphisms of homologous recombination genes and clinical outcomes of non-small cell lung cancer patients treated with definitive radiotherapy. Yin M et al. 2011 PloS one
21658613 Host genetics in follicular lymphoma. Cerhan JR et al. 2011 Best practice & research. Clinical haematology
21679448 Association of transforming growth factor-β1 gene C-509T and T869C polymorphisms with atherosclerotic cerebral infarction in the Chinese: a case-control study. Peng Z et al. 2011 Lipids in health and disease
21708280 Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. Srivastava K et al. 2011 Mutation research
21717429 Genetic variants of the nonhomologous end joining gene LIG4 and severe radiation pneumonitis in nonsmall cell lung cancer patients treated with definitive radiotherapy. Yin M et al. 2012 Cancer
21833528 Susceptibility to ankylosing spondylitis: evidence for the role of ERAP1, TGFb1 and TLR9 gene polymorphisms. Wu W et al. 2012 Rheumatology international
21869864 An integrative genomics approach to biomarker discovery in breast cancer. Hicks C et al. 2011 Cancer informatics
21877955 Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia. Al-Hadyan KS et al. 2012 Genetic testing and molecular biomarkers
21919968 Validation of genetic variants associated with early acute rejection in kidney allograft transplantation. Oetting WS et al. 2012 Clinical transplantation
21955043 Validation of single nucleotide polymorphisms associated with acute rejection in kidney transplant recipients using a large multi-center cohort. Oetting WS et al. 2011 Transplant international
21995493 TNFRSF1B +676 T>G polymorphism predicts survival of non-small cell lung cancer patients treated with chemoradiotherapy. Guan X et al. 2011 BMC cancer
22066665 Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system. Zintzaras E et al. 2011 Biomarkers
22066986 Association of 29C>T polymorphism in the transforming growth factor-β1 gene with lean body mass in community-dwelling Japanese population. Fuku N et al. 2012 Geriatrics & gerontology international
22113576 Polymorphisms in immune function genes and non-Hodgkin lymphoma survival. Aschebrook-Kilfoy B et al. 2012 Journal of cancer survivorship
22144047 A single-nucleotide polymorphism in the methylene tetrahydrofolate reductase (MTHFR) gene is associated with risk of radiation pneumonitis in lung cancer patients treated with thoracic radiation therapy. Mak RH et al. 2012 Cancer
22162633 Activation of type I interferon pathway in systemic lupus erythematosus: association with distinct clinical phenotypes. Karageorgas TP et al. 2011 Journal of biomedicine & biotechnology
22176972 Nicotinic acetylcholine receptor variants associated with susceptibility to chronic obstructive pulmonary disease: a meta-analysis. Zhang J et al. 2011 Respiratory research
22281051 Association of factor V gene polymorphism with arteriovenous graft failure. Allon M et al. 2012 American journal of kidney diseases
22282866 The effects of functional polymorphisms in the TGFβ1 gene on nasopharyngeal carcinoma susceptibility. Hu S et al. 2012 Otolaryngology--head and neck surgery
22322241 PRKCB is associated with calcineurin inhibitor-induced renal dysfunction in heart transplant recipients. Lachance K et al. 2012 Pharmacogenetics and genomics
22367361 Replication study for reported SNP associations with breast cancer survival. Beeghly-Fadiel A et al. 2012 Journal of cancer research and clinical oncology
22385796 TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients. Fachal L et al. 2012 Radiotherapy and oncology
22513132 Interaction between smoking and functional polymorphism in the TGFB1 gene is associated with ischaemic heart disease and myocardial infarction in patients with rheumatoid arthritis: a cross-sectional study. Chen Y et al. 2012 Arthritis research & therapy
22532573 The role of genetic breast cancer susceptibility variants as prognostic factors. Fasching PA et al. 2012 Human molecular genetics
22539603 Pathway analyses identify TGFBR2 as potential breast cancer susceptibility gene: results from a consortium study among Asians. Ma X et al. 2012 Cancer epidemiology, biomarkers & prevention
22579472 The IL6 gene polymorphism -634C>G and IL17F gene polymorphism 7488T>C influence bone mineral density in young and elderly Japanese women. Oishi Y et al. 2012 Gene
22607024 TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis. Lu Y et al. 2012 BMC medical genetics
22659181 Analysis of TGFB1 in European and Japanese Moyamoya disease patients. Liu C et al. 2012 European journal of medical genetics
22662243 Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease. Morris DR et al. 2012 PloS one
22667340 Transforming growth factor beta 1 genotype and p16 as prognostic factors in head and neck squamous cell carcinoma. Lundberg M et al. 2012 Acta oto-laryngologica
22724518 Transforming growth factor β1-509C/T and +869T/C polymorphisms on the risk of upper digestive tract cancer: a meta-analysis based on 10,917 participants. Zhang CF et al. 2012 Annals of human genetics
22726230 Interactive effect of genetic susceptibility with height, body mass index, and hormone replacement therapy on the risk of breast cancer. Harlid S et al. 2012 BMC women's health
22825972 The association of TGF-β1 codon 10 polymorphism with suicide behavior. Omrani MD et al. 2012 American journal of medical genetics. Part B, Neuropsychiatric genetics
22931704 The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese. Tao HM et al. 2012 The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
22956967 Genetic associations in acquired immune-mediated bone marrow failure syndromes: insights in aplastic anemia and chronic idiopathic neutropenia. Mavroudi I et al. 2012 Clinical & developmental immunology
23029430 Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma. García-González MA et al. 2012 PloS one
23051628 Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis. Le LP et al. 2013 The American Journal of dermatopathology
23059779 A study of ethnic differences in TGFβ1 gene polymorphisms and effects on the risk of radiation pneumonitis in non-small-cell lung cancer. Niu X et al. 2012 Journal of thoracic oncology
23267696 Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study. Guo Y et al. 2012 BMC medical genomics
23284751 SNPs in the TGF-β signaling pathway are associated with increased risk of brain metastasis in patients with non-small-cell lung cancer. Li Q et al. 2012 PloS one
23318652 Hereditary breast cancer in the Han Chinese population. Cao W et al. 2013 Journal of epidemiology
23325483 Contribution of TGFβ1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India. Rasool S et al. 2013 Biochemical genetics
23352795 Association of TGF-β1 -509 C/T, 29 C/T and 788 C/T gene polymorphisms with chronic periodontitis: a case-control study. Heidari Z et al. 2013 Gene
23416372 Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss. Magdoud K et al. 2013 Molecular human reproduction
23438931 Relationships between selected gene polymorphisms and blood pressure sensitivity to weight loss in elderly persons with hypertension. Kostis WJ et al. 2013 Hypertension (Dallas, Tex.
23544014 Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. Nickels S et al. 2013 PLoS genetics
23554640 Association of transforming growth factor-β1 gene variants with risk of coal workers' pneumoconiosis. Qian H et al. 2010 Journal of biomedical research
23635555 The relationship between eight GWAS-identified single-nucleotide polymorphisms and primary breast cancer outcomes. Bayraktar S et al. 2013 The oncologist
23697595 SNPs in genes implicated in radiation response are associated with radiotoxicity and evoke roles as predictive and prognostic biomarkers. Alsbeih G et al. 2013 Radiation oncology (London, England)
23719583 Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer. Kerns SL et al. 2013 Radiotherapy and oncology
23820649 Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Cooper DN et al. 2013 Human genetics
23826324 The GSTP1 105Val allele increases breast cancer risk and aggressiveness but enhances response to cyclophosphamide chemotherapy in North China. Ge J et al. 2013 PloS one
23922006 PharmGKB summary: cyclosporine and tacrolimus pathways. Barbarino JM et al. 2013 Pharmacogenetics and genomics
24060592 The TGF-B1 and IL-10 gene polymorphisms are associated with risk of developing silent myocardial ischemia in the diabetic patients. Cruz M et al. 2013 Immunology letters
24065520 Genetic variants in transforming growth factor-β gene (TGFB1) affect susceptibility to schizophrenia. Frydecka D et al. 2013 Molecular biology reports
24142982 Genes involved in innate immunity associated with asbestos-related fibrotic changes. Kukkonen MK et al. 2014 Occupational and environmental medicine
24281113 Inflammatory genetic markers of prostate cancer risk. Tindall EA et al. 2010 Cancers
24337772 The influence of genetic ancestry and ethnicity on breast cancer survival associated with genetic variation in the TGF-β-signaling pathway: The Breast Cancer Health Disparities Study. Slattery ML et al. 2014 Cancer causes & control
24359602 Common breast cancer risk variants in the post-COGS era: a comprehensive review. Maxwell KN et al. 2013 Breast cancer research
24491308 Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men. Cartwright R et al. 2014 European urology
24701578 The role of single nucleotide polymorphisms in predicting prostate cancer risk and therapeutic decision making. Van den Broeck T et al. 2014 BioMed research international
24780874 Genetic variants of the LIN28B gene predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. Wen J et al. 2014 European journal of cancer (Oxford, England
24825461 Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes. Hämäläinen S et al. 2014 PloS one
24895547 Double-bottom chaotic map particle swarm optimization based on chi-square test to determine gene-gene interactions. Yang CH et al. 2014 BioMed research international
24944803 Associations of genetic variants in ADAM33 and TGF-β1 genes with childhood asthma risk. Li H et al. 2014 Biomedical reports
25075970 The associations between immunity-related genes and breast cancer prognosis in Korean women. Choi J et al. 2014 PloS one
25098449 Transforming growth factor-beta polymorphisms and serum level in the development of osteosarcoma. Xu S et al. 2014 DNA and cell biology
25155040 Association of 5 Well-Defined Polymorphisms in the Gene Encoding Transforming Growth Factor-β1 With Coronary Artery Disease Among Chinese Patients With Hypertension. Xu J et al. 2015 Angiology
25238536 Association of cytokines in individuals sensitive and insensitive to dust mites in a Brazilian population. Caniatti MC et al. 2014 PloS one
25253900 Breast Cancer Risk - Genes, Environment and Clinics. Fasching PA et al. 2011 Geburtshilfe und Frauenheilkunde
25333473 A study on genetic variants of Fibroblast growth factor receptor 2 (FGFR2) and the risk of breast cancer from North India. Siddiqui S et al. 2014 PloS one
25359546 Pro- and anti-inflammatory cytokine gene single-nucleotide polymorphisms in inflammatory bowel disease. López-Hernández R et al. 2015 International journal of immunogenetics
25385297 Association of TGF-β1 -509C/T, +869T/C, and +915G/C polymorphisms with periodontitis susceptibility. Huang J et al. 2015 Oral diseases
25409890 Transforming growth factor-β1 rs1800470 polymorphism is associated with lung cancer risk: a meta-analysis. Fan H et al. 2014 Medical science monitor
25501632 A single nucleotide polymorphism in the TGF-β1 gene (rs1982073 C>T) may contribute to increased risks of bone fracture, osteoporosis, and osteoarthritis: a meta-analysis. Cong Y et al. 2016 Clinical rheumatology
25594618 Polymorphisms and haplotypes of the TGF-β1 gene are associated with risk of polycystic ovary syndrome in Chinese Han women. Yang J et al. 2015 European journal of obstetrics, gynecology, and reproductive biology
25603974 Association of TGFB1 29C/T and IL6 -572G/C polymorphisms with developmental hip dysplasia: a case-control study in adults with severe osteoarthritis. Čengić T et al. 2015 International orthopaedics
25721048 Genetic variants in TNFα, TGFB1, PTGS1 and PTGS2 genes are associated with diisocyanate-induced asthma. Yucesoy B et al. 2016 Journal of immunotoxicology
25738611 TGFβ1 genetic variants are associated with an increased risk of acute brucellosis. Sepanjnia A et al. 2015 Infectious diseases (London, England)
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
25871499 Association of Transforming Growth Factor Beta-1 (TGF-β1) Genetic Variation with Type 2 Diabetes and End Stage Renal Disease in Two Large Population Samples from North India. Raina P et al. 2015 Omics
26327336 Association between polymorphisms in transforming growth factor-β1 and sporadic Alzheimer's disease in a Chinese population. Yang Q et al. 2016 The International journal of neuroscience
26451011 Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. Montazeri Z et al. 2016 International journal of epidemiology
26645682 Genetic variants in PI3K/AKT pathway are associated with severe radiation pneumonitis in lung cancer patients treated with radiation therapy. Tang Y et al. 2016 Cancer medicine
26648684 Update on genetics and diabetic retinopathy. Hampton BM et al. 2015 Clinical ophthalmology (Auckland, N.Z.)
26658659 Variants of the Coagulation and Inflammation Genes Are Replicably Associated with Myocardial Infarction and Epistatically Interact in Russians. Barsova RM et al. 2015 PloS one
26870349 Impact of single-nucleotide polymorphisms on radiation pneumonitis in cancer patients. Guo CX et al. 2016 Molecular and clinical oncology
26886631 Single Nucleotide Polymorphisms and Osteoarthritis: An Overview and a Meta-Analysis. Wang T et al. 2016 Medicine
26930482 The Relationships between Polymorphisms in Genes Encoding the Growth Factors TGF-β1, PDGFB, EGF, bFGF and VEGF-A and the Restenosis Process in Patients with Stable Coronary Artery Disease Treated with Bare Metal Stent. Osadnik T et al. 2016 PloS one
27074324 PRELIMINARY REPORT ON THE PUTATIVE ASSOCIATION OF IL10 -3575 T/A GENETIC POLYMORPHISM WITH MALARIA SYMPTOMS. Domingues W et al. 2016 Revista do Instituto de Medicina Tropical de Sao Paulo
27107574 Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study. Mullany LE et al. 2016 BMC medical genomics
27118427 Association study of inflammatory genes with rheumatic heart disease in North Indian population: A multi-analytical approach. Gupta U et al. 2016 Immunology letters
27177030 Pro-inflammatory cytokines and their epistatic interactions in genetic susceptibility to schizophrenia. Srinivas L et al. 2016 Journal of neuroinflammation
27234600 Polymorphisms of TGFβ-1 and TGFBR2 in relation to coronary artery disease in a Chinese population. Yang M et al. 2016 Clinical biochemistry
27277665 Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. Zholdybayeva EV et al. 2016 Human genomics
27380173 Transforming Growth Factor-β1 T869C Gene Polymorphism Is Associated with Acquired Sick Sinus Syndrome via Linking a Higher Serum Protein Level. Chen JY et al. 2016 PloS one
27386381 Association of inflammatory gene polymorphisms with mechanical heart valve reoperation. Lee KE et al. 2016 SpringerPlus
27470220 TGF-β1 rs1982073 polymorphism contributes to radiation pneumonitis in lung cancer patients: a meta-analysis. Shen ZT et al. 2016 Journal of cellular and molecular medicine
27783717 Influence of IL-6, IL-8, and TGF-β1 gene polymorphisms on the risk of human papillomavirus-infection in women from Pernambuco, Brazil. Lima SF Júnior et al. 2016 Memorias do Instituto Oswaldo Cruz
27835972 The association of functional polymorphisms in genes encoding growth factors for endothelial cells and smooth muscle cells with the severity of coronary artery disease. Osadnik T et al. 2016 BMC cardiovascular disorders
28139521 Association between Genetic Variants of Transforming Growth Factor-β1 and Susceptibility of Pneumoconiosis: A Meta-analysis. Deng CW et al. 2017 Chinese medical journal
28178648 Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. Kuo SH et al. 2017 Oncotarget
28284979 Effect of polymorphisms on TGFB1 on allergic asthma and helminth infection in an African admixed population. Costa RD et al. 2017 Annals of allergy, asthma & immunology
28290798 [Combined Effect of Genetic Factors, Age, and Smoking on the Risk of Developing Myocardial Infarction]. Osmak G J et al. 2016 Kardiologiia
28396298 TGF-β1 functional polymorphisms: a review. Martelossi Cebinelli GC et al. 2016 European cytokine network
28438554 Interleukin-17F and interleukin-6 gene polymorphisms in Asian Indian patients with Takayasu arteritis. Danda D et al. 2017 Human immunology
28627979 Association between transforming growth factor-beta 1 gene single nucleotide polymorphisms and knee osteoarthritis susceptibility in a Chinese Han population. Lu N et al. 2017 The Journal of international medical research
28673752 Polymorphisms in immune-inflammatory response genes and the risk of deficit schizophrenia. Mak M et al. 2018 Schizophrenia research
28685248 Genetic risk factors for myocardial infarction more clearly manifest for early age of first onset. Titov BV et al. 2017 Molecular biology reports
28700046 Association between TGFβ1 polymorphisms and chronic hepatitis B infection in an Iranian population. Eskandari E et al. 2017 Revista da Sociedade Brasileira de Medicina Tropical
28784933 Association between the TGF-β1 polymorphisms and chronic obstructive pulmonary disease: a meta-analysis. Liao N et al. 2017 Bioscience reports
28802359 Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate. Raju GT et al. 2017 International journal of pediatric otorhinolaryngology
28811677 The Relationship between VEGFA and TGFB1 Polymorphisms and Target Lesion Revascularization after Elective Percutaneous Coronary Intervention. Osadnik T et al. 2017 Disease markers
28860542 Genetic association study of common variants in TGFB1 and IL-6 with developmental dysplasia of the hip in Han Chinese population. Ma W et al. 2017 Scientific reports
28977960 Association between TGFB1 genetic polymorphisms and chronic allograft dysfunction: a systematic review and meta-analysis. Liu K et al. 2017 Oncotarget
29362917 Transforming growth factor beta 1 (TGFβ1) polymorphisms and haplotype structures have dual roles in breast cancer pathogenesis. Vitiello GAF et al. 2018 Journal of cancer research and clinical oncology
29390357 Association between rs11200014, rs2981579, and rs1219648 polymorphism and breast cancer susceptibility: A meta-analysis. Zhang Y et al. 2017 Medicine
29463556 TGFβ1 Genetic Variants Predict Clinical Outcomes of HPV-Positive Oropharyngeal Cancer Patients after Definitive Radiotherapy. Tao Y et al. 2018 Clinical cancer research
29872343 Association of FGFR2 and PI3KCA genetic variants with the risk of breast cancer in a Chinese population. Wang Y et al. 2018 Cancer management and research
29920840 Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis. Deng Y et al. 2018 Human mutation
30212926 The association between transforming growth factor beta1 polymorphism and susceptibility to pulmonary fibrosis: A meta-analysis (MOOSE compliant). Xin L et al. 2018 Medicine
30321660 The correlation of TGFβ1 gene polymorphisms with congenital heart disease susceptibility. Shi Y et al. 2019 Gene
30540075 Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population. Camargo RM et al. 2018 Memorias do Instituto Oswaldo Cruz
30667085 Genetic variants involved in extracellular matrix homeostasis play a role in the susceptibility to frozen shoulder: A case-control study. Cohen C et al. 2019 Journal of orthopaedic research
30943147 IL-6 and TGF-β gene polymorphisms, their serum levels, as well as HLA profile, in patients with systemic lupus erythematosus. Paradowska-Gorycka A et al. 2019 Clinical and experimental rheumatology
31160907 Evaluation of rs1982073 polymorphism of transforming growth factor-β1 in glioblastoma. Sadeghi Y et al. 2019 Journal of research in medical sciences
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease. Gu HF et al. 2019 Frontiers in genetics
31337018 The Host-Microbe Interplay in Human Papillomavirus-Induced Carcinogenesis. Wakabayashi R et al. 2019 Microorganisms
31373163 Cytokine rs361525, rs1800750, rs1800629, rs1800896, rs1800872, rs1800795, rs1800470, and rs2430561 SNPs in relation with prognostic factors in acute myeloid leukemia. Bănescu C et al. 2019 Cancer medicine
31405342 Transforming growth factor beta 1 polymorphisms and haplotypes associated with breast cancer susceptibility: A case-control study in Tunisian women. Hadj-Ahmed M et al. 2019 Tumour biology
31444797 Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis. Figueiredo EA et al. 2020 Journal of orthopaedic research
31470810 Association of TGF-ß1 polymorphisms and chronic hepatitis C infection: a Meta-analysis. Guo P et al. 2019 BMC infectious diseases
31516756 Genetic polymorphisms and gastric cancer risk: a comprehensive review synopsis from meta-analysis and genome-wide association studies. Tian J et al. 2019 Cancer biology & medicine
31764821 Association between TGF-β1 rs1982073/rs1800469 polymorphism and lung cancer susceptibility: An updated meta-analysis involving 7698 cases and controls. Chen G et al. 2019 Medicine
31799723 Type 2 diabetes-associated polymorphisms correlate with SIRT1 and TGF-β1 gene expression. Ramírez Á et al. 2020 Annals of human genetics
31816580 Association between polymorphisms of cytokine genes and brucellosis: A comprehensive systematic review and meta-analysis. Zafari P et al. 2020 Cytokine
31886296 Impact of SNPs/Haplotypes of IL10 and IFNG on the Development of Diffuse Large B-Cell Lymphoma. Marangon AV et al. 2019 Journal of immunology research
31908741 Interleukin 10 and Transforming Growth Factor Beta Polymorphisms as Risk Factors for Kawasaki Disease: A Case-Control Study and Meta-Analysis. Rahmani F et al. 2019 Avicenna journal of medical biotechnology
31924381 Association between facial measurements and polymorphisms in human epidermal growth factor and transforming growth factor β1. Cavalcante RC et al. 2020 The British journal of oral & maxillofacial surgery
31936215 Modelling the Effects of MCM7 Variants, Somatic Mutations, and Clinical Features on Acute Myeloid Leukemia Susceptibility and Prognosis. Tripon F et al. 2020 Journal of clinical medicine
32083395 Genetic variants in rheumatic fever and rheumatic heart disease. Muhamed B et al. 2020 American journal of medical genetics. Part C, Seminars in medical genetics
32174964 Association of TGF-β1, IL-4, and IL-10 Polymorphisms With Chronic Kidney Disease Susceptibility: A Meta-Analysis. Mai M et al. 2020 Frontiers in genetics
32229413 Transforming growth factor beta 1 (TGFβ1) plasmatic levels in breast cancer and neoplasia-free women: Association with patients' characteristics and TGFB1 haplotypes. Vitiello GAF et al. 2020 Cytokine
32240778 A correlational meta-analytical study of transforming growth factor-β genetic polymorphisms as a risk factor for chronic obstructive pulmonary disease. He D et al. 2020 Gene
32252552 A Likely Role for a Novel Cell Therapeutic Target of Transforming Growth Factor-β1 on Radiation Pneumonitis in Lung and Nasopharyngeal Cancer Patients. Yin Q et al. 2020 Cell transplantation
32287273 DOT: Gene-set analysis by combining decorrelated association statistics. Vsevolozhskaya OA et al. 2020 PLoS computational biology
32309873 Association of Transforming Growth Factor-β1 rs1982073 Polymorphism with Susceptibility to Acute Renal Rejection: a Systematic Review and Meta-Analysis. Najafi F et al. 2020 Urology journal
32354559 Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 With CKD in Nigerian Patients With and Without HIV. Ekrikpo UE et al. 2020 American journal of kidney diseases
32526736 Are Genetic Variants Associated with the Location of Cerebral Arterial Lesions in Stroke Patients? Kim YJ et al. 2020 Cerebrovascular diseases (Basel, Switzerland)
32632093 A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine. Guo Y et al. 2020 Nature communications
32735465 Transforming growth factor beta 1 (TGFβ1) polymorphisms and unexplained infertility: A genetic association study. Marhemati F et al. 2020 Systems biology in reproductive medicine
33012198 Association between gene polymorphisms of TGF-β and Smad3 and susceptibility to arthritis: a meta-analysis. Liu J et al. 2020 Expert review of clinical immunology
33262631 TGF-β1 Gene Polymorphism and Its Correlation with Serum Level of TGF-β1 in Psoriasis Vulgaris Among Iraqi People. Ahmed BT et al. 2020 Clinical, cosmetic and investigational dermatology
33274798 TGFB1 polymorphisms and TGF-β1 plasma levels identify gastric adenocarcinoma patients with lower survival rate and disseminated disease. Juarez I et al. 2021 Journal of cellular and molecular medicine
33632596 TGF-β1 +869T/C (rs1982073) gene polymorphism and susceptibility to rheumatoid arthritis: Updated systematic review and meta-analysis. Zeng H et al. 2021 European journal of internal medicine
33651240 Odontogenesis-related candidate genes involved in variations of permanent teeth size. Gerber JT et al. 2021 Clinical oral investigations
33656915 Study of TNF-α, IFN-γ, TGF-β, IL-6, and IL-10 Gene Polymorphism in Individuals from the Leprosy-Endemic Area in the Brazilian Amazon. Dos Santos EC et al. 2021 Journal of interferon & cytokine research
33754428 Gene polymorphism associated with TGF-β1 and susceptibility to preeclampsia: A meta-analysis and trial sequential analysis. Liu J et al. 2021 The journal of obstetrics and gynaecology research
33788038 The comparison of serum TGF-beta levels and associated polymorphisms in patients with coronary artery ectasia and normal coronary artery. Ser ÖS et al. 2021 The Egyptian heart journal
33935123 Association of TGFB1 gene polymorphisms with cervical cancer in Bangladeshi women: A case-control study. Apu MNH et al. 2021 Tumour biology
34046752 TGFB1 (rs1800470 and rs1800469) variants are independently associated with disease activity and autoantibodies in rheumatoid arthritis patients. Iriyoda TMV et al. 2022 Clinical and experimental medicine
34354705 Association of Immune and Inflammatory Gene Polymorphism With the Risk of IgA Nephropathy: A Systematic Review and Meta-Analysis of 45 Studies. Ding X et al. 2021 Frontiers in immunology
34519592 TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus. Stadtlober NP et al. 2021 Autoimmunity
34722128 Genetic Polymorphisms of the TGFB1 Signal Peptide and Promoter Region: Role in Wilms Tumor Susceptibility? Ishibashi CM et al. 2021 Journal of kidney cancer and VHL
34738892 The Association of Interleukin-6 (IL-6) -572G/C and Transforming Growth Factor Beta 1 (TGFB1) 29C/T Single Nucleotide Polymorphisms (SNPs) with Developmental Dysplasia of the Hip: a Case Control Study. İğrek S et al. 2021 Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca
34830836 Biological Significance and Targeting of the FGFR Axis in Cancer. Chioni AM et al. 2021 Cancers
35127145 The rs1800470 Polymorphism of the TGFB1 Gene Is Associated with Myocardial Fibrosis in Heart Transplant Recipients. Gichkun OE et al. 2021 Acta naturae
35186778 The Search for Biomarkers and Treatments in Chagas Disease: Insights From TGF-Beta Studies and Immunogenetics. Ferreira RR et al. 2021 Frontiers in cellular and infection microbiology
35452412 Decisive gene strategy on osteoporosis: a comprehensive whole-literature-based approach for conclusive candidate gene targets. Chen YC et al. 2022 Aging
35469148 Association of IL-6 and TGF-β Gene Polymorphisms with the Risk of Thoracolumbar Osteoporotic Vertebral Compression Fractures. Xiong Y et al. 2022 Pharmacogenomics and personalized medicine
36054236 C allele in transforming growth factor-β1 rs1800471 gene polymorphisms might indicate a protective feature in encapsulating peritoneal sclerosis development. Bora F et al. 2023 Therapeutic apheresis and dialysis
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d