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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2395106

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32225443 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.465303 (123161/264690, TOPMED)
G=0.453946 (63202/139228, GnomAD)
A=0.21944 (6200/28254, 14KJPN) (+ 15 more)
G=0.41655 (8002/19210, ALFA)
A=0.22082 (3701/16760, 8.3KJPN)
A=0.4624 (2961/6404, 1000G_30x)
A=0.4587 (2297/5008, 1000G)
G=0.3786 (1696/4480, Estonian)
G=0.3669 (1414/3854, ALSPAC)
G=0.3584 (1329/3708, TWINSUK)
A=0.3956 (1159/2930, KOREAN)
A=0.2988 (300/1004, HapMap)
G=0.377 (376/998, GoNL)
G=0.255 (153/600, NorthernSweden)
A=0.289 (129/446, SGDP_PRJ)
A=0.282 (61/216, Qatari)
A=0.36 (16/44, Siberian)
G=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NOTCH4 : 2KB Upstream Variant
Publications
4 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 19210 A=0.58345 G=0.41655, T=0.00000 0.355232 0.188339 0.456429 19
European Sub 13920 A=0.62601 G=0.37399, T=0.00000 0.397989 0.145977 0.456034 3
African Sub 3602 A=0.4459 G=0.5541, T=0.0000 0.220433 0.328706 0.450861 8
African Others Sub 120 A=0.450 G=0.550, T=0.000 0.233333 0.333333 0.433333 1
African American Sub 3482 A=0.4457 G=0.5543, T=0.0000 0.219989 0.328547 0.451465 8
Asian Sub 112 A=0.446 G=0.554, T=0.000 0.196429 0.303571 0.5 0
East Asian Sub 86 A=0.38 G=0.62, T=0.00 0.139535 0.372093 0.488372 0
Other Asian Sub 26 A=0.65 G=0.35, T=0.00 0.384615 0.076923 0.538462 0
Latin American 1 Sub 146 A=0.473 G=0.527, T=0.000 0.232877 0.287671 0.479452 0
Latin American 2 Sub 610 A=0.549 G=0.451, T=0.000 0.311475 0.213115 0.47541 0
South Asian Sub 98 A=0.42 G=0.58, T=0.00 0.183673 0.346939 0.469388 0
Other Sub 722 A=0.544 G=0.456, T=0.000 0.313019 0.224377 0.462604 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 A=0.534697 G=0.465303
gnomAD - Genomes Global Study-wide 139228 A=0.546054 G=0.453946
gnomAD - Genomes European Sub 75518 A=0.60829 G=0.39171
gnomAD - Genomes African Sub 41564 A=0.45920 G=0.54080
gnomAD - Genomes American Sub 13564 A=0.52676 G=0.47324
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.4789 G=0.5211
gnomAD - Genomes East Asian Sub 3120 A=0.3718 G=0.6282
gnomAD - Genomes Other Sub 2142 A=0.5173 G=0.4827
14KJPN JAPANESE Study-wide 28254 A=0.21944 G=0.78056
Allele Frequency Aggregator Total Global 19210 A=0.58345 G=0.41655, T=0.00000
Allele Frequency Aggregator European Sub 13920 A=0.62601 G=0.37399, T=0.00000
Allele Frequency Aggregator African Sub 3602 A=0.4459 G=0.5541, T=0.0000
Allele Frequency Aggregator Other Sub 722 A=0.544 G=0.456, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.549 G=0.451, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.473 G=0.527, T=0.000
Allele Frequency Aggregator Asian Sub 112 A=0.446 G=0.554, T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=0.42 G=0.58, T=0.00
8.3KJPN JAPANESE Study-wide 16760 A=0.22082 G=0.77918
1000Genomes_30x Global Study-wide 6404 A=0.4624 G=0.5376
1000Genomes_30x African Sub 1786 A=0.4636 G=0.5364
1000Genomes_30x Europe Sub 1266 A=0.5671 G=0.4329
1000Genomes_30x South Asian Sub 1202 A=0.4060 G=0.5940
1000Genomes_30x East Asian Sub 1170 A=0.3325 G=0.6675
1000Genomes_30x American Sub 980 A=0.549 G=0.451
1000Genomes Global Study-wide 5008 A=0.4587 G=0.5413
1000Genomes African Sub 1322 A=0.4644 G=0.5356
1000Genomes East Asian Sub 1008 A=0.3304 G=0.6696
1000Genomes Europe Sub 1006 A=0.5736 G=0.4264
1000Genomes South Asian Sub 978 A=0.400 G=0.600
1000Genomes American Sub 694 A=0.550 G=0.450
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6214 G=0.3786
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6331 G=0.3669
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6416 G=0.3584
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3956 C=0.0000, G=0.6044
HapMap Global Study-wide 1004 A=0.2988 G=0.7012
HapMap American Sub 454 A=0.333 G=0.667
HapMap African Sub 298 A=0.376 G=0.624
HapMap Asian Sub 252 A=0.147 G=0.853
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.623 G=0.377
Northern Sweden ACPOP Study-wide 600 A=0.745 G=0.255
SGDP_PRJ Global Study-wide 446 A=0.289 G=0.711
Qatari Global Study-wide 216 A=0.282 G=0.718
Siberian Global Study-wide 44 A=0.36 G=0.64
The Danish reference pan genome Danish Study-wide 40 A=0.70 G=0.30
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 6 NC_000006.12:g.32225443A>C
GRCh38.p14 chr 6 NC_000006.12:g.32225443A>G
GRCh38.p14 chr 6 NC_000006.12:g.32225443A>T
GRCh37.p13 chr 6 NC_000006.11:g.32193220A>C
GRCh37.p13 chr 6 NC_000006.11:g.32193220A>G
GRCh37.p13 chr 6 NC_000006.11:g.32193220A>T
NOTCH4 RefSeqGene NG_028190.1:g.3625T>G
NOTCH4 RefSeqGene NG_028190.1:g.3625T>C
NOTCH4 RefSeqGene NG_028190.1:g.3625T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3663790A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3663790A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3663790A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3663896A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3663896A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3663896A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3541651A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3541651A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3541651A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3540949A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3540949A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3540949A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3448645G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3448645G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3448645G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3454241G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3454241G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3454241G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3567482A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3567482A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3567482A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3573067A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3573067A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3573067A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3530445G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3530445G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3530445G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3536065G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3536065G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3536065G>T
Gene: NOTCH4, notch receptor 4 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
NOTCH4 transcript variant 1 NM_004557.4:c. N/A Upstream Transcript Variant
NOTCH4 transcript variant 2 NR_134949.2:n. N/A Upstream Transcript Variant
NOTCH4 transcript variant 3 NR_134950.2:n. N/A Upstream Transcript 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.

Not Reported in ClinVar
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 A= C G T
GRCh38.p14 chr 6 NC_000006.12:g.32225443= NC_000006.12:g.32225443A>C NC_000006.12:g.32225443A>G NC_000006.12:g.32225443A>T
GRCh37.p13 chr 6 NC_000006.11:g.32193220= NC_000006.11:g.32193220A>C NC_000006.11:g.32193220A>G NC_000006.11:g.32193220A>T
NOTCH4 RefSeqGene NG_028190.1:g.3625= NG_028190.1:g.3625T>G NG_028190.1:g.3625T>C NG_028190.1:g.3625T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3663790= NT_113891.3:g.3663790A>C NT_113891.3:g.3663790A>G NT_113891.3:g.3663790A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3663896= NT_113891.2:g.3663896A>C NT_113891.2:g.3663896A>G NT_113891.2:g.3663896A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3541651= NT_167249.2:g.3541651A>C NT_167249.2:g.3541651A>G NT_167249.2:g.3541651A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3540949= NT_167249.1:g.3540949A>C NT_167249.1:g.3540949A>G NT_167249.1:g.3540949A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3448645G>A NT_167248.2:g.3448645G>C NT_167248.2:g.3448645= NT_167248.2:g.3448645G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3454241G>A NT_167248.1:g.3454241G>C NT_167248.1:g.3454241= NT_167248.1:g.3454241G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3567482= NT_167247.2:g.3567482A>C NT_167247.2:g.3567482A>G NT_167247.2:g.3567482A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3573067= NT_167247.1:g.3573067A>C NT_167247.1:g.3573067A>G NT_167247.1:g.3573067A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3530445G>A NT_167246.2:g.3530445G>C NT_167246.2:g.3530445= NT_167246.2:g.3530445G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3536065G>A NT_167246.1:g.3536065G>C NT_167246.1:g.3536065= NT_167246.1:g.3536065G>T
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#.

91 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3357935 Sep 28, 2001 (100)
2 SC_JCM ss4377585 Mar 26, 2002 (126)
3 SI_MHC_SNP ss12692269 Oct 31, 2003 (126)
4 SC_SNP ss13149377 Dec 05, 2003 (119)
5 SC_SNP ss15751364 Feb 27, 2004 (120)
6 SSAHASNP ss22512951 Apr 05, 2004 (121)
7 ABI ss42798202 Mar 10, 2006 (126)
8 ILLUMINA ss75244807 Dec 06, 2007 (129)
9 HGSV ss80602793 Dec 16, 2007 (130)
10 BCMHGSC_JDW ss93437100 Mar 24, 2008 (129)
11 BGI ss105991333 Feb 06, 2009 (130)
12 1000GENOMES ss109903592 Feb 13, 2009 (137)
13 ILLUMINA-UK ss116395971 Feb 14, 2009 (130)
14 GMI ss156751040 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss162201103 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss163351607 Jul 04, 2010 (132)
17 ILLUMINA ss173324711 Jul 04, 2010 (135)
18 BUSHMAN ss201629542 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207456794 Jul 04, 2010 (132)
20 1000GENOMES ss211812801 Jul 14, 2010 (137)
21 1000GENOMES ss222305533 Jul 14, 2010 (137)
22 1000GENOMES ss233400501 Jul 14, 2010 (137)
23 1000GENOMES ss240471033 Jul 15, 2010 (137)
24 BL ss254189799 May 09, 2011 (137)
25 GMI ss278728621 May 04, 2012 (137)
26 GMI ss285374607 Apr 25, 2013 (138)
27 PJP ss293826658 May 09, 2011 (137)
28 ILLUMINA ss480556445 May 04, 2012 (137)
29 ILLUMINA ss480570697 May 04, 2012 (137)
30 ILLUMINA ss485073868 May 04, 2012 (137)
31 TISHKOFF ss559116132 Apr 25, 2013 (138)
32 SSMP ss653038323 Apr 25, 2013 (138)
33 ILLUMINA ss782983203 Aug 21, 2014 (142)
34 ILLUMINA ss832239805 Apr 01, 2015 (144)
35 EVA-GONL ss982770657 Aug 21, 2014 (142)
36 1000GENOMES ss1319573582 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1581608479 Apr 01, 2015 (144)
38 EVA_DECODE ss1592314501 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1615285556 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1658279589 Apr 01, 2015 (144)
41 EVA_SVP ss1712851720 Apr 01, 2015 (144)
42 ILLUMINA ss1752630319 Sep 08, 2015 (146)
43 HAMMER_LAB ss1804359537 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1926022611 Feb 12, 2016 (147)
45 ILLUMINA ss1958890469 Feb 12, 2016 (147)
46 GENOMED ss1970358277 Jul 19, 2016 (147)
47 JJLAB ss2023644825 Sep 14, 2016 (149)
48 USC_VALOUEV ss2151811716 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2282974804 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2626309766 Nov 08, 2017 (151)
51 ILLUMINA ss2634431520 Nov 08, 2017 (151)
52 GRF ss2707405613 Nov 08, 2017 (151)
53 ILLUMINA ss2711070205 Nov 08, 2017 (151)
54 AFFY ss2985995252 Nov 08, 2017 (151)
55 SWEGEN ss2998803838 Nov 08, 2017 (151)
56 ILLUMINA ss3022601505 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3025609237 Nov 08, 2017 (151)
58 ILLUMINA ss3633416122 Oct 12, 2018 (152)
59 ILLUMINA ss3634138687 Oct 12, 2018 (152)
60 ILLUMINA ss3638621026 Oct 12, 2018 (152)
61 ILLUMINA ss3643562587 Oct 12, 2018 (152)
62 ILLUMINA ss3653114498 Oct 12, 2018 (152)
63 EGCUT_WGS ss3666717704 Jul 13, 2019 (153)
64 EVA_DECODE ss3716917283 Jul 13, 2019 (153)
65 ACPOP ss3733365557 Jul 13, 2019 (153)
66 EVA ss3764828094 Jul 13, 2019 (153)
67 ILLUMINA ss3772852309 Jul 13, 2019 (153)
68 PACBIO ss3785426712 Jul 13, 2019 (153)
69 PACBIO ss3790785832 Jul 13, 2019 (153)
70 PACBIO ss3795663345 Jul 13, 2019 (153)
71 KHV_HUMAN_GENOMES ss3807982600 Jul 13, 2019 (153)
72 EVA ss3829834991 Apr 26, 2020 (154)
73 SGDP_PRJ ss3864263668 Apr 26, 2020 (154)
74 KRGDB ss3911040801 Apr 26, 2020 (154)
75 VINODS ss4025248955 Apr 26, 2021 (155)
76 VINODS ss4025267566 Apr 26, 2021 (155)
77 VINODS ss4025288394 Apr 26, 2021 (155)
78 TOPMED ss4698521621 Apr 26, 2021 (155)
79 TOMMO_GENOMICS ss5176856665 Apr 26, 2021 (155)
80 1000G_HIGH_COVERAGE ss5267950677 Oct 13, 2022 (156)
81 EVA ss5364748358 Oct 13, 2022 (156)
82 HUGCELL_USP ss5465682558 Oct 13, 2022 (156)
83 EVA ss5508430697 Oct 13, 2022 (156)
84 1000G_HIGH_COVERAGE ss5553613156 Oct 13, 2022 (156)
85 SANFORD_IMAGENETICS ss5640097366 Oct 13, 2022 (156)
86 TOMMO_GENOMICS ss5714718729 Oct 13, 2022 (156)
87 YY_MCH ss5807311947 Oct 13, 2022 (156)
88 EVA ss5842033448 Oct 13, 2022 (156)
89 EVA ss5855285869 Oct 13, 2022 (156)
90 EVA ss5883258598 Oct 13, 2022 (156)
91 EVA ss5968599347 Oct 13, 2022 (156)
92 1000Genomes NC_000006.11 - 32193220 Oct 12, 2018 (152)
93 1000Genomes_30x NC_000006.12 - 32225443 Oct 13, 2022 (156)
94 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 32193220 Oct 12, 2018 (152)
95 Genetic variation in the Estonian population NC_000006.11 - 32193220 Oct 12, 2018 (152)
96 The Danish reference pan genome NC_000006.11 - 32193220 Apr 26, 2020 (154)
97 gnomAD - Genomes NC_000006.12 - 32225443 Apr 26, 2021 (155)
98 Genome of the Netherlands Release 5 NC_000006.11 - 32193220 Apr 26, 2020 (154)
99 HapMap NC_000006.12 - 32225443 Apr 26, 2020 (154)
100 KOREAN population from KRGDB NC_000006.11 - 32193220 Apr 26, 2020 (154)
101 Northern Sweden NC_000006.11 - 32193220 Jul 13, 2019 (153)
102 Qatari NC_000006.11 - 32193220 Apr 26, 2020 (154)
103 SGDP_PRJ NC_000006.11 - 32193220 Apr 26, 2020 (154)
104 Siberian NC_000006.11 - 32193220 Apr 26, 2020 (154)
105 8.3KJPN NC_000006.11 - 32193220 Apr 26, 2021 (155)
106 14KJPN NC_000006.12 - 32225443 Oct 13, 2022 (156)
107 TopMed NC_000006.12 - 32225443 Apr 26, 2021 (155)
108 UK 10K study - Twins NC_000006.11 - 32193220 Oct 12, 2018 (152)
109 ALFA NC_000006.12 - 32225443 Apr 26, 2021 (155)
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)
rs3130296 Mar 10, 2006 (126)
rs9267842 Mar 10, 2006 (126)
rs61560061 May 27, 2008 (130)
rs112859348 Sep 17, 2011 (135)
rs115991177 May 04, 2012 (137)
rs117955770 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
18218195, ss3911040801 NC_000006.11:32193219:A:C NC_000006.12:32225442:A:C (self)
ss80602793 NC_000006.9:32301197:A:G NC_000006.12:32225442:A:G (self)
ss93437100, ss109903592, ss116395971, ss162201103, ss163351607, ss201629542, ss207456794, ss211812801, ss254189799, ss278728621, ss285374607, ss293826658, ss480556445, ss1592314501, ss1712851720, ss3643562587 NC_000006.10:32301197:A:G NC_000006.12:32225442:A:G (self)
31341597, 17475963, 12455952, 7773418, 7769091, 18218195, 6650422, 8064541, 16280648, 4328070, 34825972, 17475963, ss222305533, ss233400501, ss240471033, ss480570697, ss485073868, ss559116132, ss653038323, ss782983203, ss832239805, ss982770657, ss1319573582, ss1581608479, ss1615285556, ss1658279589, ss1752630319, ss1804359537, ss1926022611, ss1958890469, ss1970358277, ss2023644825, ss2151811716, ss2626309766, ss2634431520, ss2707405613, ss2711070205, ss2985995252, ss2998803838, ss3022601505, ss3633416122, ss3634138687, ss3638621026, ss3653114498, ss3666717704, ss3733365557, ss3764828094, ss3772852309, ss3785426712, ss3790785832, ss3795663345, ss3829834991, ss3864263668, ss3911040801, ss5176856665, ss5364748358, ss5508430697, ss5640097366, ss5842033448, ss5968599347 NC_000006.11:32193219:A:G NC_000006.12:32225442:A:G (self)
41139091, 221334287, 3101306, 48555833, 535899179, 9297755380, ss2282974804, ss3025609237, ss3716917283, ss3807982600, ss4698521621, ss5267950677, ss5465682558, ss5553613156, ss5714718729, ss5807311947, ss5855285869, ss5883258598 NC_000006.12:32225442:A:G NC_000006.12:32225442:A:G (self)
ss15751364, ss22512951 NT_007592.13:23014955:G:G NC_000006.12:32225442:A:G (self)
ss3357935, ss12692269, ss42798202, ss75244807, ss105991333, ss156751040, ss173324711 NT_007592.15:32133219:A:G NC_000006.12:32225442:A:G (self)
ss4377585, ss13149377 NT_034874.2:3496621:A:G NC_000006.12:32225442:A:G (self)
ss4025248955 NT_167247.2:3567481:A:G NC_000006.12:32225442:A:G (self)
ss4025267566 NT_167248.2:3448644:G:G NC_000006.12:32225442:A:G (self)
ss4025288394 NT_167249.2:3541650:A:G NC_000006.12:32225442:A:G (self)
9297755380 NC_000006.12:32225442:A:T NC_000006.12:32225442:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

4 citations for rs2395106
PMID Title Author Year Journal
19143814 Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. Valdes AM et al. 2009 Diabetes, obesity & metabolism
20054343 Genetic variation within the HLA class III influences T1D susceptibility conferred by high-risk HLA haplotypes. Valdes AM et al. 2010 Genes and immunity
21076979 Conditional meta-analysis stratifying on detailed HLA genotypes identifies a novel type 1 diabetes locus around TCF19 in the MHC. Cheung YH et al. 2011 Human genetics
23441825 HLA class II SNP interactions and the association with type 1 diabetes mellitus in Bengali speaking patients of Eastern India. Raha O et al. 2013 Journal of biomedical science
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