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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.

rs7962050

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:922288 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.428339 (113377/264690, TOPMED)
G=0.400666 (57268/142932, ALFA)
G=0.421663 (58628/139040, GnomAD) (+ 16 more)
G=0.37747 (10659/28238, 14KJPN)
G=0.38085 (6383/16760, 8.3KJPN)
G=0.4408 (2823/6404, 1000G_30x)
G=0.4399 (2203/5008, 1000G)
G=0.3415 (1530/4480, Estonian)
G=0.3876 (1494/3854, ALSPAC)
G=0.3967 (1471/3708, TWINSUK)
G=0.2850 (835/2930, KOREAN)
G=0.398 (397/998, GoNL)
G=0.317 (190/600, NorthernSweden)
G=0.260 (116/446, SGDP_PRJ)
G=0.490 (142/290, HapMap)
A=0.398 (86/216, Qatari)
G=0.297 (63/212, Vietnamese)
G=0.28 (15/54, Siberian)
G=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RAD52 : Intron 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 142932 G=0.400666 A=0.599334
European Sub 123430 G=0.399457 A=0.600543
African Sub 5532 G=0.5484 A=0.4516
African Others Sub 208 G=0.524 A=0.476
African American Sub 5324 G=0.5494 A=0.4506
Asian Sub 622 G=0.254 A=0.746
East Asian Sub 490 G=0.273 A=0.727
Other Asian Sub 132 G=0.182 A=0.818
Latin American 1 Sub 736 G=0.446 A=0.554
Latin American 2 Sub 6276 G=0.3105 A=0.6895
South Asian Sub 184 G=0.440 A=0.560
Other Sub 6152 G=0.3922 A=0.6078


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=0.428339 A=0.571661
Allele Frequency Aggregator Total Global 142932 G=0.400666 A=0.599334
Allele Frequency Aggregator European Sub 123430 G=0.399457 A=0.600543
Allele Frequency Aggregator Latin American 2 Sub 6276 G=0.3105 A=0.6895
Allele Frequency Aggregator Other Sub 6152 G=0.3922 A=0.6078
Allele Frequency Aggregator African Sub 5532 G=0.5484 A=0.4516
Allele Frequency Aggregator Latin American 1 Sub 736 G=0.446 A=0.554
Allele Frequency Aggregator Asian Sub 622 G=0.254 A=0.746
Allele Frequency Aggregator South Asian Sub 184 G=0.440 A=0.560
gnomAD - Genomes Global Study-wide 139040 G=0.421663 A=0.578337
gnomAD - Genomes European Sub 75390 G=0.37510 A=0.62490
gnomAD - Genomes African Sub 41562 G=0.53960 A=0.46040
gnomAD - Genomes American Sub 13532 G=0.35124 A=0.64876
gnomAD - Genomes Ashkenazi Jewish Sub 3314 G=0.4324 A=0.5676
gnomAD - Genomes East Asian Sub 3104 G=0.2651 A=0.7349
gnomAD - Genomes Other Sub 2138 G=0.4270 A=0.5730
14KJPN JAPANESE Study-wide 28238 G=0.37747 A=0.62253
8.3KJPN JAPANESE Study-wide 16760 G=0.38085 A=0.61915
1000Genomes_30x Global Study-wide 6404 G=0.4408 A=0.5592
1000Genomes_30x African Sub 1786 G=0.5969 A=0.4031
1000Genomes_30x Europe Sub 1266 G=0.3989 A=0.6011
1000Genomes_30x South Asian Sub 1202 G=0.5033 A=0.4967
1000Genomes_30x East Asian Sub 1170 G=0.2812 A=0.7188
1000Genomes_30x American Sub 980 G=0.324 A=0.676
1000Genomes Global Study-wide 5008 G=0.4399 A=0.5601
1000Genomes African Sub 1322 G=0.6021 A=0.3979
1000Genomes East Asian Sub 1008 G=0.2827 A=0.7173
1000Genomes Europe Sub 1006 G=0.3976 A=0.6024
1000Genomes South Asian Sub 978 G=0.507 A=0.493
1000Genomes American Sub 694 G=0.326 A=0.674
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3415 A=0.6585
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3876 A=0.6124
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3967 A=0.6033
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2850 A=0.7150
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.398 A=0.602
Northern Sweden ACPOP Study-wide 600 G=0.317 A=0.683
SGDP_PRJ Global Study-wide 446 G=0.260 A=0.740
HapMap Global Study-wide 290 G=0.490 A=0.510
HapMap African Sub 112 G=0.616 A=0.384
HapMap American Sub 98 G=0.46 A=0.54
HapMap Asian Sub 80 G=0.35 A=0.65
Qatari Global Study-wide 216 G=0.602 A=0.398
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.297 A=0.703
Siberian Global Study-wide 54 G=0.28 A=0.72
The Danish reference pan genome Danish Study-wide 40 G=0.28 A=0.72
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 12 NC_000012.12:g.922288G>A
GRCh37.p13 chr 12 NC_000012.11:g.1031454G>A
RAD52 RefSeqGene NG_017078.2:g.72754C>T
Gene: RAD52, RAD52 homolog, DNA repair protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RAD52 transcript variant 2 NM_001297419.1:c.543+3162…

NM_001297419.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant 4 NM_001297421.2:c.312+3162…

NM_001297421.2:c.312+3162C>T

N/A Intron Variant
RAD52 transcript variant 5 NM_001297422.2:c.543+3162…

NM_001297422.2:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant 1 NM_134424.4:c.543+3162C>T N/A Intron Variant
RAD52 transcript variant 3 NM_001297420.1:c. N/A Genic Downstream Transcript Variant
RAD52 transcript variant 6 NR_123713.2:n. N/A Intron Variant
RAD52 transcript variant X6 XM_005253720.6:c.543+3162…

XM_005253720.6:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X1 XM_005253721.3:c.543+3162…

XM_005253721.3:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X3 XM_011520990.3:c.543+3162…

XM_011520990.3:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X4 XM_011520991.3:c.543+3162…

XM_011520991.3:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X13 XM_011520995.4:c.249+3162…

XM_011520995.4:c.249+3162C>T

N/A Intron Variant
RAD52 transcript variant X2 XM_017019769.2:c.543+3162…

XM_017019769.2:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X7 XM_017019770.2:c.543+3162…

XM_017019770.2:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X14 XM_017019771.2:c.543+3162…

XM_017019771.2:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X5 XM_047429282.1:c.543+3162…

XM_047429282.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X8 XM_047429283.1:c.543+3162…

XM_047429283.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X9 XM_047429284.1:c.543+3162…

XM_047429284.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X10 XM_047429285.1:c.543+3162…

XM_047429285.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X11 XM_047429286.1:c.543+3162…

XM_047429286.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X12 XM_047429287.1:c.543+3162…

XM_047429287.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X15 XM_047429288.1:c.543+3162…

XM_047429288.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X16 XM_047429289.1:c.543+3162…

XM_047429289.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X17 XM_047429290.1:c.543+3162…

XM_047429290.1:c.543+3162C>T

N/A Intron Variant
RAD52 transcript variant X18 XM_047429291.1:c.*13+3162…

XM_047429291.1:c.*13+3162C>T

N/A Intron 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 G= A
GRCh38.p14 chr 12 NC_000012.12:g.922288= NC_000012.12:g.922288G>A
GRCh37.p13 chr 12 NC_000012.11:g.1031454= NC_000012.11:g.1031454G>A
RAD52 RefSeqGene NG_017078.2:g.72754= NG_017078.2:g.72754C>T
RAD52 transcript variant 2 NM_001297419.1:c.543+3162= NM_001297419.1:c.543+3162C>T
RAD52 transcript variant 4 NM_001297421.2:c.312+3162= NM_001297421.2:c.312+3162C>T
RAD52 transcript variant 5 NM_001297422.2:c.543+3162= NM_001297422.2:c.543+3162C>T
RAD52 transcript NM_134424.2:c.543+3162= NM_134424.2:c.543+3162C>T
RAD52 transcript variant 1 NM_134424.4:c.543+3162= NM_134424.4:c.543+3162C>T
RAD52 transcript variant X1 XM_005253720.1:c.543+3162= XM_005253720.1:c.543+3162C>T
RAD52 transcript variant X6 XM_005253720.6:c.543+3162= XM_005253720.6:c.543+3162C>T
RAD52 transcript variant X2 XM_005253721.1:c.543+3162= XM_005253721.1:c.543+3162C>T
RAD52 transcript variant X1 XM_005253721.3:c.543+3162= XM_005253721.3:c.543+3162C>T
RAD52 transcript variant X3 XM_005253722.1:c.543+3162= XM_005253722.1:c.543+3162C>T
RAD52 transcript variant X4 XM_005253723.1:c.543+3162= XM_005253723.1:c.543+3162C>T
RAD52 transcript variant X5 XM_005253724.1:c.543+3162= XM_005253724.1:c.543+3162C>T
RAD52 transcript variant X6 XM_005253725.1:c.543+3162= XM_005253725.1:c.543+3162C>T
RAD52 transcript variant X7 XM_005253726.1:c.543+3162= XM_005253726.1:c.543+3162C>T
RAD52 transcript variant X3 XM_011520990.3:c.543+3162= XM_011520990.3:c.543+3162C>T
RAD52 transcript variant X4 XM_011520991.3:c.543+3162= XM_011520991.3:c.543+3162C>T
RAD52 transcript variant X13 XM_011520995.4:c.249+3162= XM_011520995.4:c.249+3162C>T
RAD52 transcript variant X2 XM_017019769.2:c.543+3162= XM_017019769.2:c.543+3162C>T
RAD52 transcript variant X7 XM_017019770.2:c.543+3162= XM_017019770.2:c.543+3162C>T
RAD52 transcript variant X14 XM_017019771.2:c.543+3162= XM_017019771.2:c.543+3162C>T
RAD52 transcript variant X5 XM_047429282.1:c.543+3162= XM_047429282.1:c.543+3162C>T
RAD52 transcript variant X8 XM_047429283.1:c.543+3162= XM_047429283.1:c.543+3162C>T
RAD52 transcript variant X9 XM_047429284.1:c.543+3162= XM_047429284.1:c.543+3162C>T
RAD52 transcript variant X10 XM_047429285.1:c.543+3162= XM_047429285.1:c.543+3162C>T
RAD52 transcript variant X11 XM_047429286.1:c.543+3162= XM_047429286.1:c.543+3162C>T
RAD52 transcript variant X12 XM_047429287.1:c.543+3162= XM_047429287.1:c.543+3162C>T
RAD52 transcript variant X15 XM_047429288.1:c.543+3162= XM_047429288.1:c.543+3162C>T
RAD52 transcript variant X16 XM_047429289.1:c.543+3162= XM_047429289.1:c.543+3162C>T
RAD52 transcript variant X17 XM_047429290.1:c.543+3162= XM_047429290.1:c.543+3162C>T
RAD52 transcript variant X18 XM_047429291.1:c.*13+3162= XM_047429291.1:c.*13+3162C>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#.

101 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12192361 Jul 11, 2003 (116)
2 SC_SNP ss15825112 Feb 27, 2004 (120)
3 ABI ss40154240 Mar 14, 2006 (126)
4 HGSV ss82070607 Dec 14, 2007 (130)
5 HGSV ss84875097 Dec 14, 2007 (130)
6 BCMHGSC_JDW ss88906902 Mar 24, 2008 (129)
7 HUMANGENOME_JCVI ss97280248 Feb 03, 2009 (130)
8 BGI ss106781509 Feb 03, 2009 (130)
9 1000GENOMES ss115427386 Jan 25, 2009 (130)
10 ILLUMINA-UK ss118507371 Dec 01, 2009 (131)
11 ENSEMBL ss132952771 Dec 01, 2009 (131)
12 ENSEMBL ss137359874 Dec 01, 2009 (131)
13 GMI ss157005192 Dec 01, 2009 (131)
14 ILLUMINA ss160933776 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss167623918 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss168834996 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss170230026 Jul 04, 2010 (132)
18 BUSHMAN ss203444889 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss208030016 Jul 04, 2010 (132)
20 1000GENOMES ss225564088 Jul 14, 2010 (132)
21 1000GENOMES ss235792710 Jul 15, 2010 (132)
22 1000GENOMES ss242377327 Jul 15, 2010 (132)
23 GMI ss281241769 May 04, 2012 (137)
24 GMI ss286490344 Apr 25, 2013 (138)
25 PJP ss291236513 May 09, 2011 (134)
26 ILLUMINA ss481733275 May 04, 2012 (137)
27 ILLUMINA ss481764868 May 04, 2012 (137)
28 ILLUMINA ss482729916 Sep 08, 2015 (146)
29 ILLUMINA ss485661382 May 04, 2012 (137)
30 ILLUMINA ss537536691 Sep 08, 2015 (146)
31 TISHKOFF ss562944530 Apr 25, 2013 (138)
32 SSMP ss658469400 Apr 25, 2013 (138)
33 ILLUMINA ss778621310 Sep 08, 2015 (146)
34 ILLUMINA ss783276255 Sep 08, 2015 (146)
35 ILLUMINA ss784229337 Sep 08, 2015 (146)
36 ILLUMINA ss832537342 Sep 08, 2015 (146)
37 ILLUMINA ss834078817 Sep 08, 2015 (146)
38 EVA-GONL ss989156911 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1078189577 Aug 21, 2014 (142)
40 1000GENOMES ss1343698340 Aug 21, 2014 (142)
41 DDI ss1426817632 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1576066141 Apr 01, 2015 (144)
43 EVA_DECODE ss1598827903 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1627860483 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1670854516 Apr 01, 2015 (144)
46 ILLUMINA ss1752042881 Sep 08, 2015 (146)
47 HAMMER_LAB ss1807082093 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1932516699 Feb 12, 2016 (147)
49 GENOMED ss1967504697 Jul 19, 2016 (147)
50 JJLAB ss2027005504 Sep 14, 2016 (149)
51 USC_VALOUEV ss2155323845 Dec 20, 2016 (150)
52 HUMAN_LONGEVITY ss2187200399 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2627979193 Nov 08, 2017 (151)
54 ILLUMINA ss2632913778 Nov 08, 2017 (151)
55 ILLUMINA ss2635032565 Nov 08, 2017 (151)
56 GRF ss2699642090 Nov 08, 2017 (151)
57 GNOMAD ss2906487740 Nov 08, 2017 (151)
58 SWEGEN ss3009075195 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3027305586 Nov 08, 2017 (151)
60 CSHL ss3349882872 Nov 08, 2017 (151)
61 ILLUMINA ss3626795966 Oct 12, 2018 (152)
62 ILLUMINA ss3630926121 Oct 12, 2018 (152)
63 ILLUMINA ss3633007081 Oct 12, 2018 (152)
64 ILLUMINA ss3633707419 Oct 12, 2018 (152)
65 ILLUMINA ss3634486158 Oct 12, 2018 (152)
66 ILLUMINA ss3635398532 Oct 12, 2018 (152)
67 ILLUMINA ss3636170366 Oct 12, 2018 (152)
68 ILLUMINA ss3637149473 Oct 12, 2018 (152)
69 ILLUMINA ss3640193493 Oct 12, 2018 (152)
70 URBANLAB ss3649745559 Oct 12, 2018 (152)
71 EGCUT_WGS ss3676406232 Jul 13, 2019 (153)
72 ACPOP ss3738700931 Jul 13, 2019 (153)
73 ILLUMINA ss3744786884 Jul 13, 2019 (153)
74 EVA ss3750044420 Jul 13, 2019 (153)
75 ILLUMINA ss3772286506 Jul 13, 2019 (153)
76 PACBIO ss3787118008 Jul 13, 2019 (153)
77 PACBIO ss3792235112 Jul 13, 2019 (153)
78 PACBIO ss3797117940 Jul 13, 2019 (153)
79 KHV_HUMAN_GENOMES ss3815362337 Jul 13, 2019 (153)
80 EVA ss3832932527 Apr 26, 2020 (154)
81 EVA ss3840028772 Apr 26, 2020 (154)
82 EVA ss3845511028 Apr 26, 2020 (154)
83 SGDP_PRJ ss3877521986 Apr 26, 2020 (154)
84 KRGDB ss3926013718 Apr 26, 2020 (154)
85 EVA ss4017569559 Apr 26, 2021 (155)
86 TOPMED ss4906166426 Apr 26, 2021 (155)
87 TOMMO_GENOMICS ss5204710957 Apr 26, 2021 (155)
88 1000G_HIGH_COVERAGE ss5289535746 Oct 18, 2022 (156)
89 EVA ss5315593300 Oct 18, 2022 (156)
90 EVA ss5403431801 Oct 18, 2022 (156)
91 HUGCELL_USP ss5484458734 Oct 18, 2022 (156)
92 EVA ss5510577757 Oct 18, 2022 (156)
93 1000G_HIGH_COVERAGE ss5586334264 Oct 18, 2022 (156)
94 SANFORD_IMAGENETICS ss5652434643 Oct 18, 2022 (156)
95 TOMMO_GENOMICS ss5753397398 Oct 18, 2022 (156)
96 EVA ss5799861077 Oct 18, 2022 (156)
97 YY_MCH ss5812935763 Oct 18, 2022 (156)
98 EVA ss5837480388 Oct 18, 2022 (156)
99 EVA ss5850227678 Oct 18, 2022 (156)
100 EVA ss5902984980 Oct 18, 2022 (156)
101 EVA ss5943782511 Oct 18, 2022 (156)
102 1000Genomes NC_000012.11 - 1031454 Oct 12, 2018 (152)
103 1000Genomes_30x NC_000012.12 - 922288 Oct 18, 2022 (156)
104 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 1031454 Oct 12, 2018 (152)
105 Genetic variation in the Estonian population NC_000012.11 - 1031454 Oct 12, 2018 (152)
106 The Danish reference pan genome NC_000012.11 - 1031454 Apr 26, 2020 (154)
107 gnomAD - Genomes NC_000012.12 - 922288 Apr 26, 2021 (155)
108 Genome of the Netherlands Release 5 NC_000012.11 - 1031454 Apr 26, 2020 (154)
109 HapMap NC_000012.12 - 922288 Apr 26, 2020 (154)
110 KOREAN population from KRGDB NC_000012.11 - 1031454 Apr 26, 2020 (154)
111 Northern Sweden NC_000012.11 - 1031454 Jul 13, 2019 (153)
112 Qatari NC_000012.11 - 1031454 Apr 26, 2020 (154)
113 SGDP_PRJ NC_000012.11 - 1031454 Apr 26, 2020 (154)
114 Siberian NC_000012.11 - 1031454 Apr 26, 2020 (154)
115 8.3KJPN NC_000012.11 - 1031454 Apr 26, 2021 (155)
116 14KJPN NC_000012.12 - 922288 Oct 18, 2022 (156)
117 TopMed NC_000012.12 - 922288 Apr 26, 2021 (155)
118 UK 10K study - Twins NC_000012.11 - 1031454 Oct 12, 2018 (152)
119 A Vietnamese Genetic Variation Database NC_000012.11 - 1031454 Jul 13, 2019 (153)
120 ALFA NC_000012.12 - 922288 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)
rs56819571 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82070607, ss84875097 NC_000012.9:901714:G:A NC_000012.12:922287:G:A (self)
ss88906902, ss115427386, ss118507371, ss167623918, ss168834996, ss170230026, ss203444889, ss208030016, ss281241769, ss286490344, ss291236513, ss481733275, ss1598827903, ss2635032565 NC_000012.10:901714:G:A NC_000012.12:922287:G:A (self)
56305872, 31267914, 22144480, 2810856, 13949000, 33191112, 11985796, 14558629, 29538966, 7840199, 62680264, 31267914, 6936896, ss225564088, ss235792710, ss242377327, ss481764868, ss482729916, ss485661382, ss537536691, ss562944530, ss658469400, ss778621310, ss783276255, ss784229337, ss832537342, ss834078817, ss989156911, ss1078189577, ss1343698340, ss1426817632, ss1576066141, ss1627860483, ss1670854516, ss1752042881, ss1807082093, ss1932516699, ss1967504697, ss2027005504, ss2155323845, ss2627979193, ss2632913778, ss2699642090, ss2906487740, ss3009075195, ss3349882872, ss3626795966, ss3630926121, ss3633007081, ss3633707419, ss3634486158, ss3635398532, ss3636170366, ss3637149473, ss3640193493, ss3676406232, ss3738700931, ss3744786884, ss3750044420, ss3772286506, ss3787118008, ss3792235112, ss3797117940, ss3832932527, ss3840028772, ss3877521986, ss3926013718, ss4017569559, ss5204710957, ss5315593300, ss5403431801, ss5510577757, ss5652434643, ss5799861077, ss5837480388, ss5943782511 NC_000012.11:1031453:G:A NC_000012.12:922287:G:A (self)
73860199, 397123541, 739486, 87234502, 121712083, 1139812061, ss2187200399, ss3027305586, ss3649745559, ss3815362337, ss3845511028, ss4906166426, ss5289535746, ss5484458734, ss5586334264, ss5753397398, ss5812935763, ss5850227678, ss5902984980 NC_000012.12:922287:G:A NC_000012.12:922287:G:A (self)
ss12192361, ss15825112 NT_009759.15:885714:G:A NC_000012.12:922287:G:A (self)
ss40154240, ss97280248, ss106781509, ss132952771, ss137359874, ss157005192, ss160933776 NT_009759.16:971453:G:A NC_000012.12:922287:G:A (self)
Help

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

1 citation for rs7962050
PMID Title Author Year Journal
22454423 Genetic variations and patient-reported quality of life among patients with lung cancer. Sloan JA et al. 2012 Journal of clinical oncology
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.post761+d5e8e07