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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.

rs9534262

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr13:32362509 (GRCh38.p12) 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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.477129 (119391/250228, GnomAD_exome)
T=0.485154 (64150/132226, ALFA Project)
T=0.468495 (58828/125568, TOPMED) (+ 21 more)
T=0.479171 (57836/120700, ExAC)
T=0.45321 (14191/31312, GnomAD)
T=0.47985 (6239/13002, GO-ESP)
T=0.4685 (2346/5008, 1000G)
T=0.4462 (1999/4480, Estonian)
T=0.4777 (1841/3854, ALSPAC)
T=0.4798 (1779/3708, TWINSUK)
T=0.4379 (1283/2930, KOREAN)
T=0.4726 (985/2084, HGDP_Stanford)
T=0.4751 (898/1890, HapMap)
T=0.4378 (802/1832, Korea1K)
T=0.463 (462/998, GoNL)
T=0.482 (296/614, Vietnamese)
T=0.425 (255/600, NorthernSweden)
T=0.500 (267/534, MGP)
C=0.500 (267/534, MGP)
T=0.281 (131/466, SGDP_PRJ)
T=0.421 (128/304, FINRISK)
C=0.444 (96/216, Qatari)
C=0.47 (19/40, GENOME_DK)
T=0.31 (11/36, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRCA2 : Intron Variant
Publications
6 citations
Genomic View
See rs on genome
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.p12 chr 13 NC_000013.11:g.32362509T>A
GRCh38.p12 chr 13 NC_000013.11:g.32362509T>C
GRCh37.p13 chr 13 NC_000013.10:g.32936646T>A
GRCh37.p13 chr 13 NC_000013.10:g.32936646T>C
BRCA2 RefSeqGene (LRG_293) NG_012772.3:g.52030T>A
BRCA2 RefSeqGene (LRG_293) NG_012772.3:g.52030T>C
Gene: BRCA2, BRCA2 DNA repair associated (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BRCA2 transcript NM_000059.4:c.7806-14T>A 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.

Allele: C (allele ID: 131696 )
ClinVar Accession Disease Names Clinical Significance
RCV000113823.4 Breast-ovarian cancer, familial 2 Benign
RCV000132168.2 Hereditary cancer-predisposing syndrome Benign
RCV000152883.8 not specified Benign
RCV000331967.4 Hereditary breast and ovarian cancer syndrome Benign
RCV000386451.1 Fanconi anemia Benign
RCV000459462.1 Familial cancer of breast Benign
RCV000857348.1 not provided Benign

ALFA Allele Frequency (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 132226 T=0.485154 C=0.514846
European Sub 112454 T=0.484829 C=0.515171
African Sub 3886 T=0.4452 C=0.5548
African Others Sub 130 T=0.400 C=0.600
African American Sub 3756 T=0.4468 C=0.5532
Asian Sub 318 T=0.412 C=0.588
East Asian Sub 208 T=0.433 C=0.567
Other Asian Sub 110 T=0.373 C=0.627
Latin American 1 Sub 560 T=0.491 C=0.509
Latin American 2 Sub 5438 T=0.4847 C=0.5153
South Asian Sub 4892 T=0.5157 C=0.4843
Other Sub 4678 T=0.4989 C=0.5011


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
gnomAD - Exomes Global Study-wide 250228 T=0.477129 C=0.522871
gnomAD - Exomes European Sub 134808 T=0.473080 C=0.526920
gnomAD - Exomes Asian Sub 48962 T=0.48493 C=0.51507
gnomAD - Exomes American Sub 34470 T=0.48628 C=0.51372
gnomAD - Exomes African Sub 15838 T=0.43048 C=0.56952
gnomAD - Exomes Ashkenazi Jewish Sub 10068 T=0.52870 C=0.47130
gnomAD - Exomes Other Sub 6082 T=0.4883 C=0.5117
ALFA Total Global 132226 T=0.485154 C=0.514846
ALFA European Sub 112454 T=0.484829 C=0.515171
ALFA Latin American 2 Sub 5438 T=0.4847 C=0.5153
ALFA South Asian Sub 4892 T=0.5157 C=0.4843
ALFA Other Sub 4678 T=0.4989 C=0.5011
ALFA African Sub 3886 T=0.4452 C=0.5548
ALFA Latin American 1 Sub 560 T=0.491 C=0.509
ALFA Asian Sub 318 T=0.412 C=0.588
TopMed Global Study-wide 125568 T=0.468495 C=0.531505
ExAC Global Study-wide 120700 T=0.479171 C=0.520829
ExAC Europe Sub 73142 T=0.48070 C=0.51930
ExAC Asian Sub 25124 T=0.48937 C=0.51063
ExAC American Sub 11480 T=0.48998 C=0.51002
ExAC African Sub 10054 T=0.42709 C=0.57291
ExAC Other Sub 900 T=0.514 C=0.486
gnomAD - Genomes Global Study-wide 31312 T=0.45321 C=0.54679
gnomAD - Genomes European Sub 18864 T=0.46358 C=0.53642
gnomAD - Genomes African Sub 8668 T=0.4228 C=0.5772
gnomAD - Genomes East Asian Sub 1554 T=0.4485 C=0.5515
gnomAD - Genomes Other Sub 1088 T=0.4807 C=0.5193
gnomAD - Genomes American Sub 848 T=0.479 C=0.521
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.534 C=0.466
GO Exome Sequencing Project Global Study-wide 13002 T=0.47985 C=0.52015
GO Exome Sequencing Project European American Sub 8600 T=0.4963 C=0.5037
GO Exome Sequencing Project African American Sub 4402 T=0.4478 C=0.5522
1000Genomes Global Study-wide 5008 T=0.4685 C=0.5315
1000Genomes African Sub 1322 T=0.4160 C=0.5840
1000Genomes East Asian Sub 1008 T=0.4663 C=0.5337
1000Genomes Europe Sub 1006 T=0.4821 C=0.5179
1000Genomes South Asian Sub 978 T=0.533 C=0.467
1000Genomes American Sub 694 T=0.461 C=0.539
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4462 C=0.5538
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4777 C=0.5223
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4798 C=0.5202
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4379 A=0.0000, C=0.5621
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.4726 C=0.5274
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.404 C=0.596
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.522 C=0.478
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.577 C=0.423
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.466 C=0.534
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.426 C=0.574
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.389 C=0.611
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.57 C=0.43
HapMap Global Study-wide 1890 T=0.4751 C=0.5249
HapMap American Sub 770 T=0.486 C=0.514
HapMap African Sub 690 T=0.486 C=0.514
HapMap Asian Sub 254 T=0.441 C=0.559
HapMap Europe Sub 176 T=0.438 C=0.562
Korean Genome Project KOREAN Study-wide 1832 T=0.4378 C=0.5622
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.463 C=0.537
A Vietnamese Genetic Variation Database Global Study-wide 614 T=0.482 C=0.518
Northern Sweden ACPOP Study-wide 600 T=0.425 C=0.575
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.500 C=0.500
SGDP_PRJ Global Study-wide 466 T=0.281 C=0.719
FINRISK Finnish from FINRISK project Study-wide 304 T=0.421 C=0.579
Qatari Global Study-wide 216 T=0.556 C=0.444
The Danish reference pan genome Danish Study-wide 40 T=0.53 C=0.47
Siberian Global Study-wide 36 T=0.31 C=0.69
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 T= A C
GRCh38.p12 chr 13 NC_000013.11:g.32362509= NC_000013.11:g.32362509T>A NC_000013.11:g.32362509T>C
GRCh37.p13 chr 13 NC_000013.10:g.32936646= NC_000013.10:g.32936646T>A NC_000013.10:g.32936646T>C
BRCA2 RefSeqGene (LRG_293) NG_012772.3:g.52030= NG_012772.3:g.52030T>A NG_012772.3:g.52030T>C
BRCA2 transcript NM_000059.3:c.7806-14= NM_000059.3:c.7806-14T>A NM_000059.3:c.7806-14T>C
BRCA2 transcript NM_000059.4:c.7806-14= NM_000059.4:c.7806-14T>A NM_000059.4:c.7806-14T>C
Help

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

132 SubSNP, 23 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13218006 Dec 05, 2003 (119)
2 EGP_SNPS ss16355895 Feb 27, 2004 (120)
3 SSAHASNP ss21079858 Apr 05, 2004 (121)
4 ABI ss43524925 Mar 15, 2006 (126)
5 ILLUMINA ss65762416 Oct 16, 2006 (127)
6 ILLUMINA ss66791085 Dec 01, 2006 (127)
7 ILLUMINA ss67927777 Dec 01, 2006 (127)
8 ILLUMINA ss68049053 Dec 01, 2006 (127)
9 ILLUMINA ss71613717 May 17, 2007 (127)
10 ILLUMINA ss75761909 Dec 07, 2007 (129)
11 SI_EXO ss76894743 Dec 07, 2007 (129)
12 HGSV ss78168873 Dec 07, 2007 (129)
13 HGSV ss78775144 Dec 07, 2007 (129)
14 ILLUMINA ss79299170 Dec 14, 2007 (130)
15 HGSV ss84751088 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss84831877 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss89578873 Mar 24, 2008 (129)
18 HUMANGENOME_JCVI ss97148192 Feb 04, 2009 (130)
19 ILLUMINA ss98269317 May 24, 2008 (130)
20 BGI ss106324757 Feb 04, 2009 (130)
21 1000GENOMES ss112673243 Jan 25, 2009 (130)
22 1000GENOMES ss114508365 Jan 25, 2009 (130)
23 ILLUMINA-UK ss118412689 Feb 14, 2009 (130)
24 ILLUMINA ss123008636 Dec 01, 2009 (131)
25 ENSEMBL ss132214136 Dec 01, 2009 (131)
26 ENSEMBL ss133520918 Dec 01, 2009 (131)
27 ILLUMINA ss154499392 Dec 01, 2009 (131)
28 GMI ss154628970 Dec 01, 2009 (131)
29 ILLUMINA ss159673250 Dec 01, 2009 (131)
30 ILLUMINA ss160996404 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss169156029 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss170978723 Jul 04, 2010 (132)
33 ILLUMINA ss172476979 Jul 04, 2010 (132)
34 ILLUMINA ss174861284 Jul 04, 2010 (132)
35 BUSHMAN ss199050822 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss208693119 Jul 04, 2010 (132)
37 BIC_BRODY ss210592914 Mar 29, 2010 (132)
38 1000GENOMES ss226115649 Jul 14, 2010 (132)
39 1000GENOMES ss236202447 Jul 15, 2010 (132)
40 1000GENOMES ss242707326 Jul 15, 2010 (132)
41 BL ss254910858 May 09, 2011 (134)
42 GMI ss281664417 May 04, 2012 (137)
43 GMI ss286681267 Apr 25, 2013 (138)
44 PJP ss291571712 May 09, 2011 (134)
45 ILLUMINA ss410958785 Sep 17, 2011 (135)
46 ILLUMINA ss481926532 May 04, 2012 (137)
47 ILLUMINA ss481959567 May 04, 2012 (137)
48 ILLUMINA ss482917537 Sep 08, 2015 (146)
49 ILLUMINA ss485757058 May 04, 2012 (137)
50 1000GENOMES ss491058232 May 04, 2012 (137)
51 CLINSEQ_SNP ss491678316 May 04, 2012 (137)
52 ILLUMINA ss537608560 Sep 08, 2015 (146)
53 TISHKOFF ss563590364 Apr 25, 2013 (138)
54 SSMP ss659186704 Apr 25, 2013 (138)
55 NHLBI-ESP ss713146488 Apr 25, 2013 (138)
56 ILLUMINA ss778641879 Sep 08, 2015 (146)
57 ILLUMINA ss783324323 Sep 08, 2015 (146)
58 ILLUMINA ss784276162 Sep 08, 2015 (146)
59 ILLUMINA ss825629688 Apr 01, 2015 (144)
60 ILLUMINA ss832585960 Sep 08, 2015 (146)
61 ILLUMINA ss833183973 Jul 13, 2019 (153)
62 ILLUMINA ss834099589 Sep 08, 2015 (146)
63 JMKIDD_LAB ss974486482 Aug 21, 2014 (142)
64 EVA-GONL ss990258714 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1067540727 Aug 21, 2014 (142)
66 JMKIDD_LAB ss1078986072 Aug 21, 2014 (142)
67 1000GENOMES ss1347729280 Aug 21, 2014 (142)
68 DDI ss1427149845 Apr 01, 2015 (144)
69 EVA_GENOME_DK ss1576713752 Apr 01, 2015 (144)
70 EVA_FINRISK ss1584086511 Apr 01, 2015 (144)
71 EVA_UK10K_ALSPAC ss1630017557 Apr 01, 2015 (144)
72 EVA_DECODE ss1642362904 Apr 01, 2015 (144)
73 EVA_UK10K_TWINSUK ss1673011590 Apr 01, 2015 (144)
74 EVA_EXAC ss1691251873 Apr 01, 2015 (144)
75 EVA_MGP ss1711354339 Apr 01, 2015 (144)
76 EVA_SVP ss1713380993 Apr 01, 2015 (144)
77 ILLUMINA ss1752100995 Sep 08, 2015 (146)
78 HAMMER_LAB ss1807554822 Sep 08, 2015 (146)
79 WEILL_CORNELL_DGM ss1933627355 Feb 12, 2016 (147)
80 GENOMED ss1967751264 Jul 19, 2016 (147)
81 JJLAB ss2027571007 Sep 14, 2016 (149)
82 USC_VALOUEV ss2155935528 Dec 20, 2016 (150)
83 HUMAN_LONGEVITY ss2195326026 Dec 20, 2016 (150)
84 TOPMED ss2359428888 Dec 20, 2016 (150)
85 SYSTEMSBIOZJU ss2628273648 Nov 08, 2017 (151)
86 ILLUMINA ss2633047948 Nov 08, 2017 (151)
87 ILLUMINA ss2635044126 Nov 08, 2017 (151)
88 GRF ss2700308366 Nov 08, 2017 (151)
89 ILLUMINA ss2710780090 Nov 08, 2017 (151)
90 GNOMAD ss2740354527 Nov 08, 2017 (151)
91 GNOMAD ss2749029809 Nov 08, 2017 (151)
92 GNOMAD ss2918248492 Nov 08, 2017 (151)
93 SWEGEN ss3010819074 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3027601616 Nov 08, 2017 (151)
95 TOPMED ss3189477297 Nov 08, 2017 (151)
96 CSHL ss3350396098 Nov 08, 2017 (151)
97 ILLUMINA ss3627036656 Oct 12, 2018 (152)
98 ILLUMINA ss3631052057 Oct 12, 2018 (152)
99 ILLUMINA ss3633045404 Oct 12, 2018 (152)
100 ILLUMINA ss3633747570 Oct 12, 2018 (152)
101 ILLUMINA ss3634538969 Oct 12, 2018 (152)
102 ILLUMINA ss3635437764 Oct 12, 2018 (152)
103 ILLUMINA ss3636225525 Oct 12, 2018 (152)
104 ILLUMINA ss3637188825 Oct 12, 2018 (152)
105 ILLUMINA ss3638004016 Oct 12, 2018 (152)
106 ILLUMINA ss3639014945 Oct 12, 2018 (152)
107 ILLUMINA ss3639510770 Oct 12, 2018 (152)
108 ILLUMINA ss3640246300 Oct 12, 2018 (152)
109 ILLUMINA ss3641039927 Oct 12, 2018 (152)
110 ILLUMINA ss3641334808 Oct 12, 2018 (152)
111 ILLUMINA ss3642994327 Oct 12, 2018 (152)
112 OMUKHERJEE_ADBS ss3646452494 Oct 12, 2018 (152)
113 URBANLAB ss3650004292 Oct 12, 2018 (152)
114 EGCUT_WGS ss3678080444 Jul 13, 2019 (153)
115 EVA_DECODE ss3695046251 Jul 13, 2019 (153)
116 ACPOP ss3739637340 Jul 13, 2019 (153)
117 ILLUMINA ss3744839687 Jul 13, 2019 (153)
118 EVA ss3751310898 Jul 13, 2019 (153)
119 ILLUMINA ss3772338779 Jul 13, 2019 (153)
120 PACBIO ss3787422704 Jul 13, 2019 (153)
121 PACBIO ss3792494357 Jul 13, 2019 (153)
122 PACBIO ss3797378104 Jul 13, 2019 (153)
123 KHV_HUMAN_GENOMES ss3816641444 Jul 13, 2019 (153)
124 EVA ss3824801851 Apr 27, 2020 (154)
125 EVA ss3825835195 Apr 27, 2020 (154)
126 EVA ss3833482023 Apr 27, 2020 (154)
127 EVA ss3840319162 Apr 27, 2020 (154)
128 EVA ss3845804109 Apr 27, 2020 (154)
129 HGDP ss3847474257 Apr 27, 2020 (154)
130 SGDP_PRJ ss3879717727 Apr 27, 2020 (154)
131 KRGDB ss3928545020 Apr 27, 2020 (154)
132 KOGIC ss3973322210 Apr 27, 2020 (154)
133 1000Genomes NC_000013.10 - 32936646 Oct 12, 2018 (152)
134 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 32936646 Oct 12, 2018 (152)
135 Genetic variation in the Estonian population NC_000013.10 - 32936646 Oct 12, 2018 (152)
136 ExAC NC_000013.10 - 32936646 Oct 12, 2018 (152)
137 FINRISK NC_000013.10 - 32936646 Apr 27, 2020 (154)
138 The Danish reference pan genome NC_000013.10 - 32936646 Apr 27, 2020 (154)
139 gnomAD - Genomes NC_000013.10 - 32936646 Jul 13, 2019 (153)
140 gnomAD - Exomes NC_000013.10 - 32936646 Jul 13, 2019 (153)
141 GO Exome Sequencing Project NC_000013.10 - 32936646 Oct 12, 2018 (152)
142 Genome of the Netherlands Release 5 NC_000013.10 - 32936646 Apr 27, 2020 (154)
143 HGDP-CEPH-db Supplement 1 NC_000013.9 - 31834646 Apr 27, 2020 (154)
144 HapMap NC_000013.11 - 32362509 Apr 27, 2020 (154)
145 KOREAN population from KRGDB NC_000013.10 - 32936646 Apr 27, 2020 (154)
146 Korean Genome Project NC_000013.11 - 32362509 Apr 27, 2020 (154)
147 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 32936646 Apr 27, 2020 (154)
148 Northern Sweden NC_000013.10 - 32936646 Jul 13, 2019 (153)
149 Qatari NC_000013.10 - 32936646 Apr 27, 2020 (154)
150 SGDP_PRJ NC_000013.10 - 32936646 Apr 27, 2020 (154)
151 Siberian NC_000013.10 - 32936646 Apr 27, 2020 (154)
152 TopMed NC_000013.11 - 32362509 Oct 12, 2018 (152)
153 UK 10K study - Twins NC_000013.10 - 32936646 Oct 12, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000013.10 - 32936646 Jul 13, 2019 (153)
155 dbGaP Population Frequency Project NC_000013.11 - 32362509 Apr 27, 2020 (154)
156 ClinVar RCV000113823.4 Oct 12, 2018 (152)
157 ClinVar RCV000132168.2 Oct 12, 2018 (152)
158 ClinVar RCV000152883.8 Apr 27, 2020 (154)
159 ClinVar RCV000331967.4 Apr 27, 2020 (154)
160 ClinVar RCV000386451.1 Oct 12, 2018 (152)
161 ClinVar RCV000459462.1 Oct 12, 2018 (152)
162 ClinVar RCV000857348.1 Apr 27, 2020 (154)
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)
rs57651063 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
35722414, ss3928545020 NC_000013.10:32936645:T:A NC_000013.11:32362508:T:A
152149, ss78168873, ss78775144, ss84751088, ss89578873, ss112673243, ss114508365, ss118412689, ss169156029, ss170978723, ss199050822, ss208693119, ss254910858, ss281664417, ss286681267, ss291571712, ss481926532, ss491678316, ss825629688, ss1642362904, ss1713380993, ss2635044126, ss3639014945, ss3639510770, ss3642994327, ss3847474257 NC_000013.9:31834645:T:C NC_000013.11:32362508:T:C (self)
60581722, 33650225, 23818692, 1577632, 82972, 3247376, 165364324, 9597455, 1259238, 15014440, 35722414, 470099, 12922205, 15669285, 31734707, 8451882, 33650225, 7464117, ss226115649, ss236202447, ss242707326, ss481959567, ss482917537, ss485757058, ss491058232, ss537608560, ss563590364, ss659186704, ss713146488, ss778641879, ss783324323, ss784276162, ss832585960, ss833183973, ss834099589, ss974486482, ss990258714, ss1067540727, ss1078986072, ss1347729280, ss1427149845, ss1576713752, ss1584086511, ss1630017557, ss1673011590, ss1691251873, ss1711354339, ss1752100995, ss1807554822, ss1933627355, ss1967751264, ss2027571007, ss2155935528, ss2359428888, ss2628273648, ss2633047948, ss2700308366, ss2710780090, ss2740354527, ss2749029809, ss2918248492, ss3010819074, ss3350396098, ss3627036656, ss3631052057, ss3633045404, ss3633747570, ss3634538969, ss3635437764, ss3636225525, ss3637188825, ss3638004016, ss3640246300, ss3641039927, ss3641334808, ss3646452494, ss3678080444, ss3739637340, ss3744839687, ss3751310898, ss3772338779, ss3787422704, ss3792494357, ss3797378104, ss3824801851, ss3825835195, ss3833482023, ss3840319162, ss3879717727, ss3928545020 NC_000013.10:32936645:T:C NC_000013.11:32362508:T:C (self)
RCV000113823.4, RCV000132168.2, RCV000152883.8, RCV000331967.4, RCV000386451.1, RCV000459462.1, RCV000857348.1, 961881, 29700211, 98483237, 864211152, ss210592914, ss2195326026, ss3027601616, ss3189477297, ss3650004292, ss3695046251, ss3816641444, ss3845804109, ss3973322210 NC_000013.11:32362508:T:C NC_000013.11:32362508:T:C (self)
ss13218006 NT_024524.12:1511136:T:C NC_000013.11:32362508:T:C (self)
ss21079858, ss76894743 NT_024524.13:13916645:T:C NC_000013.11:32362508:T:C (self)
ss16355895, ss43524925, ss65762416, ss66791085, ss67927777, ss68049053, ss71613717, ss75761909, ss79299170, ss84831877, ss97148192, ss98269317, ss106324757, ss123008636, ss132214136, ss133520918, ss154499392, ss154628970, ss159673250, ss160996404, ss172476979, ss174861284, ss410958785 NT_024524.14:13916645:T:C NC_000013.11:32362508:T:C (self)
Help

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

6 citations for rs9534262
PMID Title Author Year Journal
19644020 Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden. De Leeneer K et al. 2009 The Journal of molecular diagnostics
21161372 Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status. Figueiredo JC et al. 2011 Breast cancer research and treatment
22382497 Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium. Kazma R et al. 2012 Carcinogenesis
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24123850 Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants. de Garibay GR et al. 2014 Human mutation
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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.post536+f5d31d6