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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.

rs45574833

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:207126725 (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
A=0.008194 (2169/264690, TOPMED)
A=0.014257 (3522/247038, GnomAD_exome)
A=0.014607 (3188/218258, ALFA) (+ 21 more)
A=0.013927 (1949/139946, GnomAD)
A=0.013954 (1686/120826, ExAC)
A=0.00321 (253/78698, PAGE_STUDY)
A=0.00953 (124/13006, GO-ESP)
A=0.0036 (23/6404, 1000G_30x)
A=0.0030 (15/5008, 1000G)
A=0.0540 (242/4480, Estonian)
A=0.0153 (59/3854, ALSPAC)
A=0.0113 (42/3708, TWINSUK)
A=0.0007 (2/2922, KOREAN)
A=0.0005 (1/1832, Korea1K)
A=0.0053 (6/1132, Daghestan)
A=0.009 (9/998, GoNL)
A=0.035 (21/600, NorthernSweden)
A=0.007 (4/534, MGP)
A=0.053 (16/304, FINRISK)
A=0.03 (1/40, GENOME_DK)
G=0.5 (3/6, SGDP_PRJ)
A=0.5 (3/6, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
C4BPA : Missense Variant
LOC107985251 : 500B Downstream Variant
Publications
1 citation
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 234724 G=0.985719 A=0.014281 0.97178 0.000341 0.02788 7
European Sub 196048 G=0.984203 A=0.015797 0.968814 0.000408 0.030778 6
African Sub 9886 G=0.9975 A=0.0025 0.994942 0.0 0.005058 0
African Others Sub 370 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 9516 G=0.9974 A=0.0026 0.994746 0.0 0.005254 0
Asian Sub 6354 G=0.9998 A=0.0002 0.999685 0.0 0.000315 0
East Asian Sub 4502 G=0.9998 A=0.0002 0.999556 0.0 0.000444 0
Other Asian Sub 1852 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Latin American 1 Sub 834 G=0.996 A=0.004 0.992806 0.0 0.007194 0
Latin American 2 Sub 1092 G=0.9908 A=0.0092 0.981685 0.0 0.018315 0
South Asian Sub 306 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Other Sub 20204 G=0.98931 A=0.01069 0.978618 0.0 0.021382 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=0.991806 A=0.008194
gnomAD - Exomes Global Study-wide 247038 G=0.985743 A=0.014257
gnomAD - Exomes European Sub 134120 G=0.976566 A=0.023434
gnomAD - Exomes Asian Sub 47918 G=0.99754 A=0.00246
gnomAD - Exomes American Sub 32954 G=0.99730 A=0.00270
gnomAD - Exomes African Sub 16082 G=0.99838 A=0.00162
gnomAD - Exomes Ashkenazi Jewish Sub 10012 G=0.99381 A=0.00619
gnomAD - Exomes Other Sub 5952 G=0.9859 A=0.0141
Allele Frequency Aggregator Total Global 218258 G=0.985393 A=0.014607
Allele Frequency Aggregator European Sub 185870 G=0.984086 A=0.015914
Allele Frequency Aggregator Other Sub 18754 G=0.98923 A=0.01077
Allele Frequency Aggregator Asian Sub 6354 G=0.9998 A=0.0002
Allele Frequency Aggregator African Sub 5048 G=0.9972 A=0.0028
Allele Frequency Aggregator Latin American 2 Sub 1092 G=0.9908 A=0.0092
Allele Frequency Aggregator Latin American 1 Sub 834 G=0.996 A=0.004
Allele Frequency Aggregator South Asian Sub 306 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 139946 G=0.986073 A=0.013927
gnomAD - Genomes European Sub 75820 G=0.97700 A=0.02300
gnomAD - Genomes African Sub 41914 G=0.99730 A=0.00270
gnomAD - Genomes American Sub 13618 G=0.99648 A=0.00352
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9940 A=0.0060
gnomAD - Genomes East Asian Sub 3126 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2144 G=0.9888 A=0.0112
ExAC Global Study-wide 120826 G=0.986046 A=0.013954
ExAC Europe Sub 73124 G=0.97868 A=0.02132
ExAC Asian Sub 24896 G=0.99783 A=0.00217
ExAC American Sub 11500 G=0.99722 A=0.00278
ExAC African Sub 10400 G=0.99798 A=0.00202
ExAC Other Sub 906 G=0.978 A=0.022
The PAGE Study Global Study-wide 78698 G=0.99679 A=0.00321
The PAGE Study AfricanAmerican Sub 32514 G=0.99702 A=0.00298
The PAGE Study Mexican Sub 10810 G=0.99648 A=0.00352
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9956 A=0.0044
The PAGE Study NativeHawaiian Sub 4534 G=0.9974 A=0.0026
The PAGE Study Cuban Sub 4228 G=0.9927 A=0.0073
The PAGE Study Dominican Sub 3828 G=0.9971 A=0.0029
The PAGE Study CentralAmerican Sub 2450 G=0.9976 A=0.0024
The PAGE Study SouthAmerican Sub 1982 G=0.9929 A=0.0071
The PAGE Study NativeAmerican Sub 1260 G=0.9968 A=0.0032
The PAGE Study SouthAsian Sub 856 G=0.994 A=0.006
GO Exome Sequencing Project Global Study-wide 13006 G=0.99047 A=0.00953
GO Exome Sequencing Project European American Sub 8600 G=0.9871 A=0.0129
GO Exome Sequencing Project African American Sub 4406 G=0.9970 A=0.0030
1000Genomes_30x Global Study-wide 6404 G=0.9964 A=0.0036
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9858 A=0.0142
1000Genomes_30x South Asian Sub 1202 G=0.9992 A=0.0008
1000Genomes_30x East Asian Sub 1170 G=0.9983 A=0.0017
1000Genomes_30x American Sub 980 G=0.998 A=0.002
1000Genomes Global Study-wide 5008 G=0.9970 A=0.0030
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9891 A=0.0109
1000Genomes South Asian Sub 978 G=0.999 A=0.001
1000Genomes American Sub 694 G=0.997 A=0.003
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9460 A=0.0540
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9847 A=0.0153
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9887 A=0.0113
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9993 A=0.0007
Korean Genome Project KOREAN Study-wide 1832 G=0.9995 A=0.0005
Genome-wide autozygosity in Daghestan Global Study-wide 1132 G=0.9947 A=0.0053
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.995 A=0.005
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=1.000 A=0.000
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.984 A=0.016
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.991 A=0.009
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=1.00 A=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.991 A=0.009
Northern Sweden ACPOP Study-wide 600 G=0.965 A=0.035
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.993 A=0.007
FINRISK Finnish from FINRISK project Study-wide 304 G=0.947 A=0.053
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
SGDP_PRJ Global Study-wide 6 G=0.5 A=0.5
Siberian Global Study-wide 2 G=0.5 A=0.5
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 1 NC_000001.11:g.207126725G>A
GRCh38.p14 chr 1 NC_000001.11:g.207126725G>C
GRCh37.p13 chr 1 NC_000001.10:g.207300070G>A
GRCh37.p13 chr 1 NC_000001.10:g.207300070G>C
C4BPA RefSeqGene (LRG_547) NG_029579.1:g.27464G>A
C4BPA RefSeqGene (LRG_547) NG_029579.1:g.27464G>C
Gene: C4BPA, complement component 4 binding protein alpha (plus strand)
Molecule type Change Amino acid[Codon] SO Term
C4BPA transcript NM_000715.4:c.719G>A R [CGC] > H [CAC] Coding Sequence Variant
C4b-binding protein alpha chain precursor NP_000706.1:p.Arg240His R (Arg) > H (His) Missense Variant
C4BPA transcript NM_000715.4:c.719G>C R [CGC] > P [CCC] Coding Sequence Variant
C4b-binding protein alpha chain precursor NP_000706.1:p.Arg240Pro R (Arg) > P (Pro) Missense Variant
C4BPA transcript variant X1 XM_005273251.3:c.719G>A R [CGC] > H [CAC] Coding Sequence Variant
C4b-binding protein alpha chain isoform X1 XP_005273308.1:p.Arg240His R (Arg) > H (His) Missense Variant
C4BPA transcript variant X1 XM_005273251.3:c.719G>C R [CGC] > P [CCC] Coding Sequence Variant
C4b-binding protein alpha chain isoform X1 XP_005273308.1:p.Arg240Pro R (Arg) > P (Pro) Missense Variant
C4BPA transcript variant X2 XM_005273252.5:c.719G>A R [CGC] > H [CAC] Coding Sequence Variant
C4b-binding protein alpha chain isoform X1 XP_005273309.1:p.Arg240His R (Arg) > H (His) Missense Variant
C4BPA transcript variant X2 XM_005273252.5:c.719G>C R [CGC] > P [CCC] Coding Sequence Variant
C4b-binding protein alpha chain isoform X1 XP_005273309.1:p.Arg240Pro R (Arg) > P (Pro) Missense Variant
Gene: LOC107985251, uncharacterized LOC107985251 (minus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC107985251 transcript variant X5 XR_001738422.2:n. N/A Downstream Transcript Variant
LOC107985251 transcript variant X1 XR_007066837.1:n. N/A Downstream Transcript Variant
LOC107985251 transcript variant X2 XR_007066838.1:n. N/A Downstream Transcript Variant
LOC107985251 transcript variant X3 XR_007066839.1:n. N/A Downstream Transcript Variant
LOC107985251 transcript variant X4 XR_007066840.1:n. N/A Downstream Transcript Variant
LOC107985251 transcript variant X6 XR_007066841.1:n. N/A Downstream Transcript Variant
LOC107985251 transcript variant X7 XR_007066843.1:n. N/A Downstream 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.

Allele: A (allele ID: 1164855 )
ClinVar Accession Disease Names Clinical Significance
RCV001530867.2 not provided Benign
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 1 NC_000001.11:g.207126725= NC_000001.11:g.207126725G>A NC_000001.11:g.207126725G>C
GRCh37.p13 chr 1 NC_000001.10:g.207300070= NC_000001.10:g.207300070G>A NC_000001.10:g.207300070G>C
C4BPA RefSeqGene (LRG_547) NG_029579.1:g.27464= NG_029579.1:g.27464G>A NG_029579.1:g.27464G>C
C4BPA transcript NM_000715.4:c.719= NM_000715.4:c.719G>A NM_000715.4:c.719G>C
C4BPA transcript NM_000715.3:c.719= NM_000715.3:c.719G>A NM_000715.3:c.719G>C
C4BPA transcript variant X2 XM_005273252.5:c.719= XM_005273252.5:c.719G>A XM_005273252.5:c.719G>C
C4BPA transcript variant X2 XM_005273252.4:c.719= XM_005273252.4:c.719G>A XM_005273252.4:c.719G>C
C4BPA transcript variant X1 XM_005273252.3:c.719= XM_005273252.3:c.719G>A XM_005273252.3:c.719G>C
C4BPA transcript variant X2 XM_005273252.2:c.719= XM_005273252.2:c.719G>A XM_005273252.2:c.719G>C
C4BPA transcript variant X2 XM_005273252.1:c.719= XM_005273252.1:c.719G>A XM_005273252.1:c.719G>C
C4BPA transcript variant X1 XM_005273251.3:c.719= XM_005273251.3:c.719G>A XM_005273251.3:c.719G>C
C4BPA transcript variant X1 XM_005273251.2:c.719= XM_005273251.2:c.719G>A XM_005273251.2:c.719G>C
C4BPA transcript variant X1 XM_005273251.1:c.719= XM_005273251.1:c.719G>A XM_005273251.1:c.719G>C
C4b-binding protein alpha chain precursor NP_000706.1:p.Arg240= NP_000706.1:p.Arg240His NP_000706.1:p.Arg240Pro
C4b-binding protein alpha chain isoform X1 XP_005273309.1:p.Arg240= XP_005273309.1:p.Arg240His XP_005273309.1:p.Arg240Pro
C4b-binding protein alpha chain isoform X1 XP_005273308.1:p.Arg240= XP_005273308.1:p.Arg240His XP_005273308.1:p.Arg240Pro
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#.

86 SubSNP, 22 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SI_EXO ss71642936 May 17, 2007 (127)
2 BCMHGSC_JDW ss87948509 Mar 23, 2008 (130)
3 1000GENOMES ss108895967 Jan 23, 2009 (130)
4 ENSEMBL ss138143021 Dec 01, 2009 (131)
5 SEATTLESEQ ss159700369 Dec 01, 2009 (131)
6 ILLUMINA ss161043979 Dec 01, 2009 (131)
7 1000GENOMES ss230874227 Jul 14, 2010 (132)
8 NHLBI-ESP ss342026538 May 09, 2011 (134)
9 ILLUMINA ss479173157 Sep 08, 2015 (146)
10 ILLUMINA ss479611986 May 04, 2012 (137)
11 ILLUMINA ss482208324 May 04, 2012 (137)
12 1000GENOMES ss489789213 May 04, 2012 (137)
13 EXOME_CHIP ss491309756 May 04, 2012 (137)
14 CLINSEQ_SNP ss491614220 May 04, 2012 (137)
15 ILLUMINA ss533132437 Sep 08, 2015 (146)
16 SSMP ss648653308 Apr 25, 2013 (138)
17 ILLUMINA ss779479869 Sep 08, 2015 (146)
18 ILLUMINA ss780743397 Sep 08, 2015 (146)
19 ILLUMINA ss781024664 Sep 08, 2015 (146)
20 ILLUMINA ss783420881 Sep 08, 2015 (146)
21 ILLUMINA ss834949886 Sep 08, 2015 (146)
22 EVA-GONL ss976071764 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1067431427 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1068547857 Aug 21, 2014 (142)
25 1000GENOMES ss1294380294 Aug 21, 2014 (142)
26 HAMMER_LAB ss1397270115 Sep 08, 2015 (146)
27 EVA_GENOME_DK ss1574630627 Apr 01, 2015 (144)
28 EVA_FINRISK ss1584014683 Apr 01, 2015 (144)
29 EVA_DECODE ss1585466843 Apr 01, 2015 (144)
30 EVA_UK10K_ALSPAC ss1601993101 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1644987134 Apr 01, 2015 (144)
32 EVA_EXAC ss1686030700 Apr 01, 2015 (144)
33 EVA_MGP ss1710941675 Apr 01, 2015 (144)
34 ILLUMINA ss1751894681 Sep 08, 2015 (146)
35 ILLUMINA ss1917741568 Feb 12, 2016 (147)
36 ILLUMINA ss1946021463 Feb 12, 2016 (147)
37 ILLUMINA ss1958351536 Feb 12, 2016 (147)
38 JJLAB ss2020170058 Sep 14, 2016 (149)
39 USC_VALOUEV ss2148199725 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2169537241 Dec 20, 2016 (150)
41 ILLUMINA ss2632620690 Nov 08, 2017 (151)
42 GNOMAD ss2732237925 Nov 08, 2017 (151)
43 GNOMAD ss2746551353 Nov 08, 2017 (151)
44 GNOMAD ss2765461679 Nov 08, 2017 (151)
45 AFFY ss2984892341 Nov 08, 2017 (151)
46 SWEGEN ss2988340185 Nov 08, 2017 (151)
47 ILLUMINA ss3626292731 Oct 11, 2018 (152)
48 ILLUMINA ss3626292732 Oct 11, 2018 (152)
49 ILLUMINA ss3630650961 Oct 11, 2018 (152)
50 ILLUMINA ss3634369581 Oct 11, 2018 (152)
51 ILLUMINA ss3636048385 Oct 11, 2018 (152)
52 ILLUMINA ss3640076935 Oct 11, 2018 (152)
53 ILLUMINA ss3644517469 Oct 11, 2018 (152)
54 ILLUMINA ss3653662027 Oct 11, 2018 (152)
55 EGCUT_WGS ss3656298199 Jul 12, 2019 (153)
56 EVA_DECODE ss3688497552 Jul 12, 2019 (153)
57 EVA_DECODE ss3688497553 Jul 12, 2019 (153)
58 ACPOP ss3727802634 Jul 12, 2019 (153)
59 ILLUMINA ss3744359255 Jul 12, 2019 (153)
60 ILLUMINA ss3744670413 Jul 12, 2019 (153)
61 EVA ss3747251008 Jul 12, 2019 (153)
62 PAGE_CC ss3770867445 Jul 12, 2019 (153)
63 ILLUMINA ss3772171367 Jul 12, 2019 (153)
64 EVA ss3823710802 Apr 25, 2020 (154)
65 EVA ss3825586809 Apr 25, 2020 (154)
66 EVA ss3826608853 Apr 25, 2020 (154)
67 EVA ss3836704947 Apr 25, 2020 (154)
68 EVA ss3842116354 Apr 25, 2020 (154)
69 SGDP_PRJ ss3850759430 Apr 25, 2020 (154)
70 KRGDB ss3896059598 Apr 25, 2020 (154)
71 KOGIC ss3946361280 Apr 25, 2020 (154)
72 EVA ss3986157089 Apr 25, 2021 (155)
73 TOPMED ss4481216725 Apr 25, 2021 (155)
74 EVA ss5237634084 Oct 12, 2022 (156)
75 1000G_HIGH_COVERAGE ss5245564278 Oct 12, 2022 (156)
76 EVA ss5324363898 Oct 12, 2022 (156)
77 HUGCELL_USP ss5446023248 Oct 12, 2022 (156)
78 1000G_HIGH_COVERAGE ss5519542364 Oct 12, 2022 (156)
79 SANFORD_IMAGENETICS ss5624227771 Oct 12, 2022 (156)
80 SANFORD_IMAGENETICS ss5627314857 Oct 12, 2022 (156)
81 EVA ss5833167614 Oct 12, 2022 (156)
82 EVA ss5847571410 Oct 12, 2022 (156)
83 EVA ss5848284394 Oct 12, 2022 (156)
84 EVA ss5911702262 Oct 12, 2022 (156)
85 EVA ss5939144815 Oct 12, 2022 (156)
86 EVA ss5979302356 Oct 12, 2022 (156)
87 1000Genomes NC_000001.10 - 207300070 Oct 11, 2018 (152)
88 1000Genomes_30x NC_000001.11 - 207126725 Oct 12, 2022 (156)
89 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 207300070 Oct 11, 2018 (152)
90 Genome-wide autozygosity in Daghestan NC_000001.9 - 205366693 Apr 25, 2020 (154)
91 Genetic variation in the Estonian population NC_000001.10 - 207300070 Oct 11, 2018 (152)
92 ExAC NC_000001.10 - 207300070 Oct 11, 2018 (152)
93 FINRISK NC_000001.10 - 207300070 Apr 25, 2020 (154)
94 The Danish reference pan genome NC_000001.10 - 207300070 Apr 25, 2020 (154)
95 gnomAD - Genomes NC_000001.11 - 207126725 Apr 25, 2021 (155)
96 gnomAD - Exomes NC_000001.10 - 207300070 Jul 12, 2019 (153)
97 GO Exome Sequencing Project NC_000001.10 - 207300070 Oct 11, 2018 (152)
98 Genome of the Netherlands Release 5 NC_000001.10 - 207300070 Apr 25, 2020 (154)
99 KOREAN population from KRGDB NC_000001.10 - 207300070 Apr 25, 2020 (154)
100 Korean Genome Project NC_000001.11 - 207126725 Apr 25, 2020 (154)
101 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 207300070 Apr 25, 2020 (154)
102 Northern Sweden NC_000001.10 - 207300070 Jul 12, 2019 (153)
103 The PAGE Study NC_000001.11 - 207126725 Jul 12, 2019 (153)
104 SGDP_PRJ NC_000001.10 - 207300070 Apr 25, 2020 (154)
105 Siberian NC_000001.10 - 207300070 Apr 25, 2020 (154)
106 TopMed NC_000001.11 - 207126725 Apr 25, 2021 (155)
107 UK 10K study - Twins NC_000001.10 - 207300070 Oct 11, 2018 (152)
108 ALFA NC_000001.11 - 207126725 Apr 25, 2021 (155)
109 ClinVar RCV001530867.2 Oct 12, 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)
rs61821015 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
31264, ss87948509, ss108895967, ss482208324, ss491614220, ss1397270115, ss1585466843 NC_000001.9:205366692:G:A NC_000001.11:207126724:G:A (self)
5225219, 2877884, 2036447, 5265299, 11144, 1856463, 1271855, 169323, 1256610, 3236992, 58427, 1087499, 2776410, 716079, 2877884, ss230874227, ss342026538, ss479173157, ss479611986, ss489789213, ss491309756, ss533132437, ss648653308, ss779479869, ss780743397, ss781024664, ss783420881, ss834949886, ss976071764, ss1067431427, ss1068547857, ss1294380294, ss1574630627, ss1584014683, ss1601993101, ss1644987134, ss1686030700, ss1710941675, ss1751894681, ss1917741568, ss1946021463, ss1958351536, ss2020170058, ss2148199725, ss2632620690, ss2732237925, ss2746551353, ss2765461679, ss2984892341, ss2988340185, ss3626292731, ss3626292732, ss3630650961, ss3634369581, ss3636048385, ss3640076935, ss3644517469, ss3653662027, ss3656298199, ss3727802634, ss3744359255, ss3744670413, ss3747251008, ss3772171367, ss3823710802, ss3825586809, ss3826608853, ss3836704947, ss3850759430, ss3896059598, ss3986157089, ss5324363898, ss5624227771, ss5627314857, ss5833167614, ss5847571410, ss5848284394, ss5939144815, ss5979302356 NC_000001.10:207300069:G:A NC_000001.11:207126724:G:A (self)
RCV001530867.2, 7068299, 37652296, 2739281, 88914, 44823060, 8478874455, ss2169537241, ss3688497552, ss3770867445, ss3842116354, ss3946361280, ss4481216725, ss5237634084, ss5245564278, ss5446023248, ss5519542364, ss5911702262 NC_000001.11:207126724:G:A NC_000001.11:207126724:G:A (self)
ss71642936, ss138143021, ss159700369, ss161043979 NT_167186.1:817848:G:A NC_000001.11:207126724:G:A (self)
ss3688497553 NC_000001.11:207126724:G:C NC_000001.11:207126724: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.

1 citation for rs45574833
PMID Title Author Year Journal
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
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