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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.

rs2229840

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:124341916 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.157220 (45830/291502, ALFA)
T=0.152696 (40417/264690, TOPMED)
T=0.170874 (42357/247884, GnomAD_exome) (+ 25 more)
T=0.147458 (20671/140182, GnomAD)
T=0.170510 (20391/119588, ExAC)
T=0.15044 (11839/78694, PAGE_STUDY)
T=0.13738 (3882/28258, 14KJPN)
T=0.13842 (2320/16760, 8.3KJPN)
T=0.14678 (1897/12924, GO-ESP)
T=0.1597 (1023/6404, 1000G_30x)
T=0.1609 (806/5008, 1000G)
T=0.1415 (634/4480, Estonian)
T=0.1635 (630/3854, ALSPAC)
T=0.1578 (585/3708, TWINSUK)
T=0.1235 (361/2924, KOREAN)
T=0.1641 (342/2084, HGDP_Stanford)
T=0.1369 (259/1892, HapMap)
T=0.180 (180/998, GoNL)
T=0.111 (88/792, PRJEB37584)
T=0.096 (59/613, Vietnamese)
T=0.180 (108/600, NorthernSweden)
T=0.142 (76/534, MGP)
T=0.178 (54/304, FINRISK)
T=0.069 (15/216, Qatari)
C=0.414 (63/152, SGDP_PRJ)
T=0.12 (10/80, Ancient Sardinia)
T=0.28 (11/40, GENOME_DK)
C=0.45 (10/22, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NCOR2 : Missense 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 307910 C=0.843214 G=0.000000, T=0.156786
European Sub 258146 C=0.842484 G=0.000000, T=0.157516
African Sub 12940 C=0.88825 G=0.00000, T=0.11175
African Others Sub 450 C=0.896 G=0.000, T=0.104
African American Sub 12490 C=0.88799 G=0.00000, T=0.11201
Asian Sub 3818 C=0.9013 G=0.0000, T=0.0987
East Asian Sub 2450 C=0.8988 G=0.0000, T=0.1012
Other Asian Sub 1368 C=0.9057 G=0.0000, T=0.0943
Latin American 1 Sub 844 C=0.860 G=0.000, T=0.140
Latin American 2 Sub 6892 C=0.7616 G=0.0000, T=0.2384
South Asian Sub 5048 C=0.8051 G=0.0000, T=0.1949
Other Sub 20222 C=0.84937 G=0.00000, T=0.15063


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
Allele Frequency Aggregator Total Global 291502 C=0.842780 G=0.000000, T=0.157220
Allele Frequency Aggregator European Sub 248004 C=0.842805 G=0.000000, T=0.157195
Allele Frequency Aggregator Other Sub 18778 C=0.84839 G=0.00000, T=0.15161
Allele Frequency Aggregator African Sub 8118 C=0.8921 G=0.0000, T=0.1079
Allele Frequency Aggregator Latin American 2 Sub 6892 C=0.7616 G=0.0000, T=0.2384
Allele Frequency Aggregator South Asian Sub 5048 C=0.8051 G=0.0000, T=0.1949
Allele Frequency Aggregator Asian Sub 3818 C=0.9013 G=0.0000, T=0.0987
Allele Frequency Aggregator Latin American 1 Sub 844 C=0.860 G=0.000, T=0.140
TopMed Global Study-wide 264690 C=0.847304 T=0.152696
gnomAD - Exomes Global Study-wide 247884 C=0.829126 T=0.170874
gnomAD - Exomes European Sub 133362 C=0.839647 T=0.160353
gnomAD - Exomes Asian Sub 48560 C=0.83517 T=0.16483
gnomAD - Exomes American Sub 34506 C=0.75375 T=0.24625
gnomAD - Exomes African Sub 15414 C=0.88368 T=0.11632
gnomAD - Exomes Ashkenazi Jewish Sub 10018 C=0.83769 T=0.16231
gnomAD - Exomes Other Sub 6024 C=0.8254 T=0.1746
gnomAD - Genomes Global Study-wide 140182 C=0.852542 T=0.147458
gnomAD - Genomes European Sub 75912 C=0.84427 T=0.15573
gnomAD - Genomes African Sub 42016 C=0.88240 T=0.11760
gnomAD - Genomes American Sub 13646 C=0.80346 T=0.19654
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.8294 T=0.1706
gnomAD - Genomes East Asian Sub 3130 C=0.8978 T=0.1022
gnomAD - Genomes Other Sub 2154 C=0.8426 T=0.1574
ExAC Global Study-wide 119588 C=0.829490 T=0.170510
ExAC Europe Sub 72354 C=0.83474 T=0.16526
ExAC Asian Sub 25104 C=0.83003 T=0.16997
ExAC American Sub 11552 C=0.75095 T=0.24905
ExAC African Sub 9694 C=0.8833 T=0.1167
ExAC Other Sub 884 C=0.820 T=0.180
The PAGE Study Global Study-wide 78694 C=0.84956 T=0.15044
The PAGE Study AfricanAmerican Sub 32512 C=0.88370 T=0.11630
The PAGE Study Mexican Sub 10810 C=0.76975 T=0.23025
The PAGE Study Asian Sub 8316 C=0.8571 T=0.1429
The PAGE Study PuertoRican Sub 7918 C=0.8323 T=0.1677
The PAGE Study NativeHawaiian Sub 4532 C=0.9285 T=0.0715
The PAGE Study Cuban Sub 4230 C=0.8357 T=0.1643
The PAGE Study Dominican Sub 3828 C=0.8508 T=0.1492
The PAGE Study CentralAmerican Sub 2450 C=0.7824 T=0.2176
The PAGE Study SouthAmerican Sub 1982 C=0.7523 T=0.2477
The PAGE Study NativeAmerican Sub 1260 C=0.8056 T=0.1944
The PAGE Study SouthAsian Sub 856 C=0.773 T=0.227
14KJPN JAPANESE Study-wide 28258 C=0.86262 T=0.13738
8.3KJPN JAPANESE Study-wide 16760 C=0.86158 T=0.13842
GO Exome Sequencing Project Global Study-wide 12924 C=0.85322 T=0.14678
GO Exome Sequencing Project European American Sub 8568 C=0.8375 T=0.1625
GO Exome Sequencing Project African American Sub 4356 C=0.8841 T=0.1159
1000Genomes_30x Global Study-wide 6404 C=0.8403 T=0.1597
1000Genomes_30x African Sub 1786 C=0.8925 T=0.1075
1000Genomes_30x Europe Sub 1266 C=0.8468 T=0.1532
1000Genomes_30x South Asian Sub 1202 C=0.7879 T=0.2121
1000Genomes_30x East Asian Sub 1170 C=0.8940 T=0.1060
1000Genomes_30x American Sub 980 C=0.737 T=0.263
1000Genomes Global Study-wide 5008 C=0.8391 T=0.1609
1000Genomes African Sub 1322 C=0.8880 T=0.1120
1000Genomes East Asian Sub 1008 C=0.8929 T=0.1071
1000Genomes Europe Sub 1006 C=0.8449 T=0.1551
1000Genomes South Asian Sub 978 C=0.784 T=0.216
1000Genomes American Sub 694 C=0.736 T=0.264
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8585 T=0.1415
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8365 T=0.1635
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8422 T=0.1578
KOREAN population from KRGDB KOREAN Study-wide 2924 C=0.8765 T=0.1235
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8359 T=0.1641
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.870 T=0.130
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.819 T=0.181
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.800 T=0.200
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.887 T=0.113
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.926 T=0.074
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.630 T=0.370
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.97 T=0.03
HapMap Global Study-wide 1892 C=0.8631 T=0.1369
HapMap American Sub 770 C=0.852 T=0.148
HapMap African Sub 692 C=0.880 T=0.120
HapMap Asian Sub 254 C=0.882 T=0.118
HapMap Europe Sub 176 C=0.818 T=0.182
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.820 T=0.180
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.889 T=0.111
CNV burdens in cranial meningiomas CRM Sub 792 C=0.889 T=0.111
A Vietnamese Genetic Variation Database Global Study-wide 613 C=0.904 T=0.096
Northern Sweden ACPOP Study-wide 600 C=0.820 T=0.180
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.858 T=0.142
FINRISK Finnish from FINRISK project Study-wide 304 C=0.822 T=0.178
Qatari Global Study-wide 216 C=0.931 T=0.069
SGDP_PRJ Global Study-wide 152 C=0.414 T=0.586
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 C=0.88 T=0.12
The Danish reference pan genome Danish Study-wide 40 C=0.72 T=0.28
Siberian Global Study-wide 22 C=0.45 T=0.55
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.124341916C>G
GRCh38.p14 chr 12 NC_000012.12:g.124341916C>T
GRCh37.p13 chr 12 NC_000012.11:g.124826462C>G
GRCh37.p13 chr 12 NC_000012.11:g.124826462C>T
NCOR2 RefSeqGene NG_022928.2:g.230549G>C
NCOR2 RefSeqGene NG_022928.2:g.230549G>A
Gene: NCOR2, nuclear receptor corepressor 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NCOR2 transcript variant 1 NM_006312.6:c.5095G>C A [GCG] > P [CCG] Coding Sequence Variant
nuclear receptor corepressor 2 isoform 1 NP_006303.4:p.Ala1699Pro A (Ala) > P (Pro) Missense Variant
NCOR2 transcript variant 1 NM_006312.6:c.5095G>A A [GCG] > T [ACG] Coding Sequence Variant
nuclear receptor corepressor 2 isoform 1 NP_006303.4:p.Ala1699Thr A (Ala) > T (Thr) Missense Variant
NCOR2 transcript variant 2 NM_001077261.4:c.5065G>C A [GCG] > P [CCG] Coding Sequence Variant
nuclear receptor corepressor 2 isoform 2 NP_001070729.2:p.Ala1689P…

NP_001070729.2:p.Ala1689Pro

 		A (Ala) > P (Pro) Missense Variant
NCOR2 transcript variant 2 NM_001077261.4:c.5065G>A A [GCG] > T [ACG] Coding Sequence Variant
nuclear receptor corepressor 2 isoform 2 NP_001070729.2:p.Ala1689T…

NP_001070729.2:p.Ala1689Thr

 		A (Ala) > T (Thr) Missense Variant
NCOR2 transcript variant 3 NM_001206654.2:c.5065G>C A [GCG] > P [CCG] Coding Sequence Variant
nuclear receptor corepressor 2 isoform 3 NP_001193583.1:p.Ala1689P…

NP_001193583.1:p.Ala1689Pro

 		A (Ala) > P (Pro) Missense Variant
NCOR2 transcript variant 3 NM_001206654.2:c.5065G>A A [GCG] > T [ACG] Coding Sequence Variant
nuclear receptor corepressor 2 isoform 3 NP_001193583.1:p.Ala1689T…

NP_001193583.1:p.Ala1689Thr

 		A (Ala) > T (Thr) 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: T (allele ID: 1267125 )
ClinVar Accession Disease Names Clinical Significance
RCV001688152.1 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 C= G T
GRCh38.p14 chr 12 NC_000012.12:g.124341916= NC_000012.12:g.124341916C>G NC_000012.12:g.124341916C>T
GRCh37.p13 chr 12 NC_000012.11:g.124826462= NC_000012.11:g.124826462C>G NC_000012.11:g.124826462C>T
NCOR2 RefSeqGene NG_022928.2:g.230549= NG_022928.2:g.230549G>C NG_022928.2:g.230549G>A
NCOR2 transcript variant 1 NM_006312.6:c.5095= NM_006312.6:c.5095G>C NM_006312.6:c.5095G>A
NCOR2 transcript variant 1 NM_006312.5:c.5095= NM_006312.5:c.5095G>C NM_006312.5:c.5095G>A
NCOR2 transcript variant 2 NM_001077261.4:c.5065= NM_001077261.4:c.5065G>C NM_001077261.4:c.5065G>A
NCOR2 transcript variant 2 NM_001077261.3:c.5065= NM_001077261.3:c.5065G>C NM_001077261.3:c.5065G>A
NCOR2 transcript variant 3 NM_001206654.2:c.5065= NM_001206654.2:c.5065G>C NM_001206654.2:c.5065G>A
NCOR2 transcript variant 3 NM_001206654.1:c.5065= NM_001206654.1:c.5065G>C NM_001206654.1:c.5065G>A
nuclear receptor corepressor 2 isoform 1 NP_006303.4:p.Ala1699= NP_006303.4:p.Ala1699Pro NP_006303.4:p.Ala1699Thr
nuclear receptor corepressor 2 isoform 2 NP_001070729.2:p.Ala1689= NP_001070729.2:p.Ala1689Pro NP_001070729.2:p.Ala1689Thr
nuclear receptor corepressor 2 isoform 3 NP_001193583.1:p.Ala1689= NP_001193583.1:p.Ala1689Pro NP_001193583.1:p.Ala1689Thr
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#.

149 SubSNP, 28 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss20941865 Apr 05, 2004 (121)
2 ABI ss38908515 Mar 13, 2006 (126)
3 APPLERA_GI ss48423151 Mar 13, 2006 (126)
4 ILLUMINA ss66644083 Nov 30, 2006 (127)
5 ILLUMINA ss67235574 Nov 30, 2006 (127)
6 ILLUMINA ss67631681 Nov 30, 2006 (127)
7 PERLEGEN ss69123485 May 17, 2007 (127)
8 ILLUMINA ss70713912 May 25, 2008 (130)
9 ILLUMINA ss71281603 May 17, 2007 (127)
10 ILLUMINA ss75496038 Dec 06, 2007 (129)
11 ILLUMINA ss79121733 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss84001872 Dec 15, 2007 (130)
13 CANCER-GENOME ss86351474 Mar 23, 2008 (129)
14 HUMANGENOME_JCVI ss97347676 Feb 05, 2009 (130)
15 ILLUMINA ss121957251 Dec 01, 2009 (131)
16 ENSEMBL ss137554501 Dec 01, 2009 (131)
17 ILLUMINA ss153888218 Dec 01, 2009 (131)
18 ILLUMINA ss159370108 Dec 01, 2009 (131)
19 SEATTLESEQ ss159727583 Dec 01, 2009 (131)
20 ILLUMINA ss160517489 Dec 01, 2009 (131)
21 ILLUMINA ss171104609 Jul 04, 2010 (132)
22 ILLUMINA ss173193720 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss175292057 Jul 04, 2010 (132)
24 1000GENOMES ss226007901 Jul 14, 2010 (132)
25 1000GENOMES ss236121993 Jul 15, 2010 (132)
26 1000GENOMES ss242643471 Jul 15, 2010 (132)
27 GMI ss286641864 Apr 25, 2013 (138)
28 PJP ss291358416 May 09, 2011 (134)
29 ILLUMINA ss410920616 Sep 17, 2011 (135)
30 ILLUMINA ss480472363 May 04, 2012 (137)
31 ILLUMINA ss480486703 May 04, 2012 (137)
32 ILLUMINA ss481284284 Sep 08, 2015 (146)
33 ILLUMINA ss485033656 May 04, 2012 (137)
34 1000GENOMES ss491054885 May 04, 2012 (137)
35 EXOME_CHIP ss491475694 May 04, 2012 (137)
36 CLINSEQ_SNP ss491675148 May 04, 2012 (137)
37 ILLUMINA ss537057665 Sep 08, 2015 (146)
38 TISHKOFF ss563464357 Apr 25, 2013 (138)
39 SSMP ss659050118 Apr 25, 2013 (138)
40 NHLBI-ESP ss713130079 Apr 25, 2013 (138)
41 ILLUMINA ss778859751 Sep 08, 2015 (146)
42 ILLUMINA ss780694234 Sep 08, 2015 (146)
43 ILLUMINA ss782963074 Sep 08, 2015 (146)
44 ILLUMINA ss783368129 Sep 08, 2015 (146)
45 ILLUMINA ss783925105 Sep 08, 2015 (146)
46 ILLUMINA ss825452251 Apr 01, 2015 (144)
47 ILLUMINA ss832219313 Sep 08, 2015 (146)
48 ILLUMINA ss832881936 Jul 13, 2019 (153)
49 ILLUMINA ss834320518 Sep 08, 2015 (146)
50 EVA-GONL ss990056760 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1067539212 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1078840304 Aug 21, 2014 (142)
53 1000GENOMES ss1347015711 Aug 21, 2014 (142)
54 EVA_GENOME_DK ss1576581657 Apr 01, 2015 (144)
55 EVA_FINRISK ss1584085491 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1629644603 Apr 01, 2015 (144)
57 EVA_DECODE ss1642166746 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1672638636 Apr 01, 2015 (144)
59 EVA_EXAC ss1691183368 Apr 01, 2015 (144)
60 EVA_MGP ss1711347789 Apr 01, 2015 (144)
61 EVA_SVP ss1713365444 Apr 01, 2015 (144)
62 ILLUMINA ss1752052293 Sep 08, 2015 (146)
63 ILLUMINA ss1752052294 Sep 08, 2015 (146)
64 ILLUMINA ss1917880574 Feb 12, 2016 (147)
65 WEILL_CORNELL_DGM ss1933411822 Feb 12, 2016 (147)
66 ILLUMINA ss1946353078 Feb 12, 2016 (147)
67 ILLUMINA ss1959475071 Feb 12, 2016 (147)
68 JJLAB ss2027461454 Sep 14, 2016 (149)
69 USC_VALOUEV ss2155818768 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2193977267 Dec 20, 2016 (150)
71 ILLUMINA ss2633021091 Nov 08, 2017 (151)
72 GRF ss2700179529 Nov 08, 2017 (151)
73 ILLUMINA ss2710775153 Nov 08, 2017 (151)
74 GNOMAD ss2740249773 Nov 08, 2017 (151)
75 GNOMAD ss2748996071 Nov 08, 2017 (151)
76 GNOMAD ss2916264717 Nov 08, 2017 (151)
77 AFFY ss2984994781 Nov 08, 2017 (151)
78 SWEGEN ss3010506304 Nov 08, 2017 (151)
79 ILLUMINA ss3021477050 Nov 08, 2017 (151)
80 BIOINF_KMB_FNS_UNIBA ss3027541235 Nov 08, 2017 (151)
81 CSHL ss3350292828 Nov 08, 2017 (151)
82 ILLUMINA ss3626991969 Oct 12, 2018 (152)
83 ILLUMINA ss3626991970 Oct 12, 2018 (152)
84 ILLUMINA ss3631026744 Oct 12, 2018 (152)
85 ILLUMINA ss3633739471 Oct 12, 2018 (152)
86 ILLUMINA ss3634529119 Oct 12, 2018 (152)
87 ILLUMINA ss3634529120 Oct 12, 2018 (152)
88 ILLUMINA ss3635429860 Oct 12, 2018 (152)
89 ILLUMINA ss3636215096 Oct 12, 2018 (152)
90 ILLUMINA ss3637180881 Oct 12, 2018 (152)
91 ILLUMINA ss3637993015 Oct 12, 2018 (152)
92 ILLUMINA ss3639009042 Oct 12, 2018 (152)
93 ILLUMINA ss3639507606 Oct 12, 2018 (152)
94 ILLUMINA ss3640236452 Oct 12, 2018 (152)
95 ILLUMINA ss3640236453 Oct 12, 2018 (152)
96 ILLUMINA ss3641036984 Oct 12, 2018 (152)
97 ILLUMINA ss3641331799 Oct 12, 2018 (152)
98 ILLUMINA ss3642984204 Oct 12, 2018 (152)
99 ILLUMINA ss3644606085 Oct 12, 2018 (152)
100 OMUKHERJEE_ADBS ss3646449137 Oct 12, 2018 (152)
101 URBANLAB ss3649940904 Oct 12, 2018 (152)
102 ILLUMINA ss3651861148 Oct 12, 2018 (152)
103 ILLUMINA ss3653764932 Oct 12, 2018 (152)
104 EGCUT_WGS ss3677806272 Jul 13, 2019 (153)
105 EVA_DECODE ss3694662783 Jul 13, 2019 (153)
106 ILLUMINA ss3725367009 Jul 13, 2019 (153)
107 ACPOP ss3739464749 Jul 13, 2019 (153)
108 ILLUMINA ss3744402914 Jul 13, 2019 (153)
109 ILLUMINA ss3744829921 Jul 13, 2019 (153)
110 ILLUMINA ss3744829922 Jul 13, 2019 (153)
111 EVA ss3751081362 Jul 13, 2019 (153)
112 PAGE_CC ss3771725105 Jul 13, 2019 (153)
113 ILLUMINA ss3772329085 Jul 13, 2019 (153)
114 ILLUMINA ss3772329086 Jul 13, 2019 (153)
115 PACBIO ss3787362776 Jul 13, 2019 (153)
116 PACBIO ss3792440129 Jul 13, 2019 (153)
117 PACBIO ss3797323324 Jul 13, 2019 (153)
118 KHV_HUMAN_GENOMES ss3816408843 Jul 13, 2019 (153)
119 EVA ss3824786956 Apr 27, 2020 (154)
120 EVA ss3825831890 Apr 27, 2020 (154)
121 EVA ss3833375427 Apr 27, 2020 (154)
122 HGDP ss3847467182 Apr 27, 2020 (154)
123 SGDP_PRJ ss3879309476 Apr 27, 2020 (154)
124 KRGDB ss3928092938 Apr 27, 2020 (154)
125 FSA-LAB ss3984040872 Apr 26, 2021 (155)
126 EVA ss3984674862 Apr 26, 2021 (155)
127 EVA ss3985620753 Apr 26, 2021 (155)
128 EVA ss3986592349 Apr 26, 2021 (155)
129 TOPMED ss4936019080 Apr 26, 2021 (155)
130 TOMMO_GENOMICS ss5208617749 Apr 26, 2021 (155)
131 EVA ss5236910652 Apr 26, 2021 (155)
132 1000G_HIGH_COVERAGE ss5292574278 Oct 16, 2022 (156)
133 EVA ss5315656710 Oct 16, 2022 (156)
134 EVA ss5408840578 Oct 16, 2022 (156)
135 HUGCELL_USP ss5487142020 Oct 16, 2022 (156)
136 1000G_HIGH_COVERAGE ss5590954537 Oct 16, 2022 (156)
137 EVA ss5624038078 Oct 16, 2022 (156)
138 SANFORD_IMAGENETICS ss5624315102 Oct 16, 2022 (156)
139 SANFORD_IMAGENETICS ss5654142840 Oct 16, 2022 (156)
140 TOMMO_GENOMICS ss5759085681 Oct 16, 2022 (156)
141 EVA ss5799886949 Oct 16, 2022 (156)
142 YY_MCH ss5813728671 Oct 16, 2022 (156)
143 EVA ss5838645663 Oct 16, 2022 (156)
144 EVA ss5847417820 Oct 16, 2022 (156)
145 EVA ss5847687624 Oct 16, 2022 (156)
146 EVA ss5848366968 Oct 16, 2022 (156)
147 EVA ss5906405260 Oct 16, 2022 (156)
148 EVA ss5945556465 Oct 16, 2022 (156)
149 EVA ss5979407542 Oct 16, 2022 (156)
150 1000Genomes NC_000012.11 - 124826462 Oct 12, 2018 (152)
151 1000Genomes_30x NC_000012.12 - 124341916 Oct 16, 2022 (156)
152 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 124826462 Oct 12, 2018 (152)
153 Genetic variation in the Estonian population NC_000012.11 - 124826462 Oct 12, 2018 (152)
154 ExAC NC_000012.11 - 124826462 Oct 12, 2018 (152)
155 FINRISK NC_000012.11 - 124826462 Apr 27, 2020 (154)
156 The Danish reference pan genome NC_000012.11 - 124826462 Apr 27, 2020 (154)
157 gnomAD - Genomes NC_000012.12 - 124341916 Apr 26, 2021 (155)
158 gnomAD - Exomes NC_000012.11 - 124826462 Jul 13, 2019 (153)
159 GO Exome Sequencing Project NC_000012.11 - 124826462 Oct 12, 2018 (152)
160 Genome of the Netherlands Release 5 NC_000012.11 - 124826462 Apr 27, 2020 (154)
161 HGDP-CEPH-db Supplement 1 NC_000012.10 - 123392415 Apr 27, 2020 (154)
162 HapMap NC_000012.12 - 124341916 Apr 27, 2020 (154)
163 KOREAN population from KRGDB NC_000012.11 - 124826462 Apr 27, 2020 (154)
164 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 124826462 Apr 27, 2020 (154)
165 Northern Sweden NC_000012.11 - 124826462 Jul 13, 2019 (153)
166 The PAGE Study NC_000012.12 - 124341916 Jul 13, 2019 (153)
167 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 124826462 Apr 26, 2021 (155)
168 CNV burdens in cranial meningiomas NC_000012.11 - 124826462 Apr 26, 2021 (155)
169 Qatari NC_000012.11 - 124826462 Apr 27, 2020 (154)
170 SGDP_PRJ NC_000012.11 - 124826462 Apr 27, 2020 (154)
171 Siberian NC_000012.11 - 124826462 Apr 27, 2020 (154)
172 8.3KJPN NC_000012.11 - 124826462 Apr 26, 2021 (155)
173 14KJPN NC_000012.12 - 124341916 Oct 16, 2022 (156)
174 TopMed NC_000012.12 - 124341916 Apr 26, 2021 (155)
175 UK 10K study - Twins NC_000012.11 - 124826462 Oct 12, 2018 (152)
176 A Vietnamese Genetic Variation Database NC_000012.11 - 124826462 Jul 13, 2019 (153)
177 ALFA NC_000012.12 - 124341916 Apr 26, 2021 (155)
178 ClinVar RCV001688152.1 Oct 16, 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)
rs59703581 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7791884869 NC_000012.12:124341915:C:G NC_000012.12:124341915:C:G (self)
ss3639009042, ss3639507606 NC_000012.9:123351341:C:T NC_000012.12:124341915:C:T (self)
145074, ss175292057, ss286641864, ss291358416, ss480472363, ss491675148, ss825452251, ss1642166746, ss1713365444, ss3642984204, ss3847467182 NC_000012.10:123392414:C:T NC_000012.12:124341915:C:T (self)
59840992, 33237402, 23544520, 1503533, 81952, 3163882, 9490008, 1244359, 14821272, 35270332, 463549, 12749614, 846680, 224359, 15453752, 31326456, 8335122, 66587056, 33237402, 7370535, ss226007901, ss236121993, ss242643471, ss480486703, ss481284284, ss485033656, ss491054885, ss491475694, ss537057665, ss563464357, ss659050118, ss713130079, ss778859751, ss780694234, ss782963074, ss783368129, ss783925105, ss832219313, ss832881936, ss834320518, ss990056760, ss1067539212, ss1078840304, ss1347015711, ss1576581657, ss1584085491, ss1629644603, ss1672638636, ss1691183368, ss1711347789, ss1752052293, ss1752052294, ss1917880574, ss1933411822, ss1946353078, ss1959475071, ss2027461454, ss2155818768, ss2633021091, ss2700179529, ss2710775153, ss2740249773, ss2748996071, ss2916264717, ss2984994781, ss3010506304, ss3021477050, ss3350292828, ss3626991969, ss3626991970, ss3631026744, ss3633739471, ss3634529119, ss3634529120, ss3635429860, ss3636215096, ss3637180881, ss3637993015, ss3640236452, ss3640236453, ss3641036984, ss3641331799, ss3644606085, ss3646449137, ss3651861148, ss3653764932, ss3677806272, ss3739464749, ss3744402914, ss3744829921, ss3744829922, ss3751081362, ss3772329085, ss3772329086, ss3787362776, ss3792440129, ss3797323324, ss3824786956, ss3825831890, ss3833375427, ss3879309476, ss3928092938, ss3984040872, ss3984674862, ss3985620753, ss3986592349, ss5208617749, ss5315656710, ss5408840578, ss5624038078, ss5624315102, ss5654142840, ss5799886949, ss5838645663, ss5847417820, ss5847687624, ss5848366968, ss5945556465, ss5979407542 NC_000012.11:124826461:C:T NC_000012.12:124341915:C:T (self)
RCV001688152.1, 78480472, 422117702, 922570, 946574, 92922785, 151564737, 7791884869, ss2193977267, ss3027541235, ss3649940904, ss3694662783, ss3725367009, ss3771725105, ss3816408843, ss4936019080, ss5236910652, ss5292574278, ss5487142020, ss5590954537, ss5759085681, ss5813728671, ss5906405260 NC_000012.12:124341915:C:T NC_000012.12:124341915:C:T (self)
ss20941865 NT_009755.16:2135614:C:T NC_000012.12:124341915:C:T (self)
ss38908515, ss48423151, ss66644083, ss67235574, ss67631681, ss69123485, ss70713912, ss71281603, ss75496038, ss79121733, ss84001872, ss86351474, ss97347676, ss121957251, ss137554501, ss153888218, ss159370108, ss159727583, ss160517489, ss171104609, ss173193720, ss410920616 NT_009755.19:2245838:C:T NC_000012.12:124341915:C:T (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 rs2229840
PMID Title Author Year Journal
20003447 Nuclear receptor coregulator SNP discovery and impact on breast cancer risk. Hartmaier RJ et al. 2009 BMC cancer
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