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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 Aliases 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.

rs169547

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr13:32355250 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00512 (1287/251168, GnomAD_exome)
T=0.02119 (2661/125568, TOPMED)
T=0.00628 (762/121304, ExAC) (+ 8 more)
T=0.0315 (2483/78702, PAGE_STUDY)
T=0.0181 (568/31390, GnomAD)
T=0.0223 (290/13002, GO-ESP)
T=0.024 (121/5008, 1000G)
T=0.001 (2/3854, ALSPAC)
T=0.000 (1/3708, TWINSUK)
T=0.00 (0/614, Vietnamese)
T=0.00 (0/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRCA2 : Missense Variant
Publications
10 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.32355250T>C
GRCh37.p13 chr 13 NC_000013.10:g.32929387T>C
BRCA2 RefSeqGene (LRG_293) NG_012772.3:g.44771C>T
Gene: BRCA2, BRCA2 DNA repair associated (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BRCA2 transcript NM_000059.3:c.7397C>T A [GCA] > V [GTA] Coding Sequence Variant
breast cancer type 2 susceptibility protein NP_000050.2:p.Ala2466Val A (Ala) > V (Val) 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: 66985 )
ClinVar Accession Disease Names Clinical Significance
RCV000113751.3 Breast-ovarian cancer, familial 2 Benign
RCV000168597.2 not specified Benign
RCV000203672.4 Hereditary breast and ovarian cancer syndrome Benign
RCV000476057.1 Familial cancer of breast Benign
RCV000656618.2 not provided Benign
Allele: C (allele ID: 137477 )
ClinVar Accession Disease Names Clinical Significance
RCV000120357.6 not specified Benign
RCV000207137.1 Ductal breast carcinoma Uncertain-Significance
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 251168 T=0.00512 C=0.99488
gnomAD - Exomes European Sub 135192 T=0.00024 C=0.99976
gnomAD - Exomes Asian Sub 48978 T=0.0001 C=0.9999
gnomAD - Exomes American Sub 34560 T=0.0040 C=0.9960
gnomAD - Exomes African Sub 16242 T=0.0674 C=0.9326
gnomAD - Exomes Ashkenazi Jewish Sub 10076 T=0.0000 C=1.0000
gnomAD - Exomes Other Sub 6120 T=0.003 C=0.997
TopMed Global Study-wide 125568 T=0.02119 C=0.97881
ExAC Global Study-wide 121304 T=0.00628 C=0.99372
ExAC Europe Sub 73274 T=0.0004 C=0.9996
ExAC Asian Sub 25158 T=0.0002 C=0.9998
ExAC American Sub 11572 T=0.0030 C=0.9970
ExAC African Sub 10392 T=0.0670 C=0.9330
ExAC Other Sub 908 T=0.00 C=1.00
The PAGE Study Global Study-wide 78702 T=0.0315 C=0.9685
The PAGE Study AfricanAmerican Sub 32516 T=0.0635 C=0.9365
The PAGE Study Mexican Sub 10810 T=0.0042 C=0.9958
The PAGE Study Asian Sub 8318 T=0.000 C=1.000
The PAGE Study PuertoRican Sub 7918 T=0.016 C=0.984
The PAGE Study NativeHawaiian Sub 4534 T=0.000 C=1.000
The PAGE Study Cuban Sub 4230 T=0.012 C=0.988
The PAGE Study Dominican Sub 3828 T=0.039 C=0.961
The PAGE Study CentralAmerican Sub 2450 T=0.009 C=0.991
The PAGE Study SouthAmerican Sub 1982 T=0.007 C=0.993
The PAGE Study NativeAmerican Sub 1260 T=0.009 C=0.991
The PAGE Study SouthAsian Sub 856 T=0.00 C=1.00
gnomAD - Genomes Global Study-wide 31390 T=0.0181 C=0.9819
gnomAD - Genomes European Sub 18906 T=0.0003 C=0.9997
gnomAD - Genomes African Sub 8702 T=0.064 C=0.936
gnomAD - Genomes East Asian Sub 1556 T=0.001 C=0.999
gnomAD - Genomes Other Sub 1088 T=0.003 C=0.997
gnomAD - Genomes American Sub 848 T=0.00 C=1.00
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.00 C=1.00
GO Exome Sequencing Project Global Study-wide 13002 T=0.0223 C=0.9777
GO Exome Sequencing Project European American Sub 8598 T=0.001 C=0.999
GO Exome Sequencing Project African American Sub 4404 T=0.065 C=0.935
1000Genomes Global Study-wide 5008 T=0.024 C=0.976
1000Genomes African Sub 1322 T=0.089 C=0.911
1000Genomes East Asian Sub 1008 T=0.000 C=1.000
1000Genomes Europe Sub 1006 T=0.001 C=0.999
1000Genomes South Asian Sub 978 T=0.00 C=1.00
1000Genomes American Sub 694 T=0.00 C=1.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.001 C=0.999
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.000 C=1.000
A Vietnamese Genetic Variation Database Global Study-wide 614 T=0.00 C=1.00
Northern Sweden ACPOP Study-wide 600 T=0.00 C=1.00
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= C Note
GRCh38.p12 chr 13 NC_000013.11:g.32355250= NC_000013.11:g.32355250T>C
GRCh37.p13 chr 13 NC_000013.10:g.32929387= NC_000013.10:g.32929387T>C
BRCA2 RefSeqGene (LRG_293) NG_012772.3:g.44771C>T NG_012772.3:g.44771=
BRCA2 transcript NM_000059.3:c.7397C>T NM_000059.3:c.7397=
breast cancer type 2 susceptibility protein NP_000050.2:p.Ala2466Val NP_000050.2:p.Ala2466=
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#.

138 SubSNP, 11 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss226036 Jul 12, 2000 (79)
2 SC_JCM ss603809 Jul 16, 2000 (80)
3 KWOK ss887440 Oct 04, 2000 (86)
4 KWOK ss1048023 Oct 04, 2000 (86)
5 KWOK ss1709662 Oct 18, 2000 (87)
6 KWOK ss1746541 Oct 18, 2000 (87)
7 SNP500CANCER ss5586320 Mar 31, 2003 (113)
8 SC_SNP ss13217968 Dec 05, 2003 (119)
9 WUGSC_SSAHASNP ss14463555 Dec 05, 2003 (119)
10 EGP_SNPS ss16355878 Feb 27, 2004 (120)
11 CSHL-HAPMAP ss19285822 Feb 27, 2004 (120)
12 CSHL-HAPMAP ss19977706 Feb 27, 2004 (120)
13 SSAHASNP ss21127991 Apr 05, 2004 (121)
14 ABI ss43536468 Mar 13, 2006 (126)
15 EGP_SNPS ss66862609 Dec 01, 2006 (127)
16 PERLEGEN ss69130545 May 17, 2007 (127)
17 AFFY ss74810221 Aug 16, 2007 (128)
18 ILLUMINA ss74868064 Dec 06, 2007 (129)
19 OSTRANDER ss76882724 Dec 06, 2007 (129)
20 HGSV ss83237434 Dec 15, 2007 (130)
21 HGSV ss85502780 Dec 15, 2007 (130)
22 BCMHGSC_JDW ss89578850 Mar 24, 2008 (129)
23 HUMANGENOME_JCVI ss96957329 Feb 05, 2009 (130)
24 BGI ss106324754 Feb 05, 2009 (130)
25 1000GENOMES ss112673219 Jan 25, 2009 (130)
26 1000GENOMES ss114508324 Jan 25, 2009 (130)
27 ILLUMINA-UK ss118412664 Feb 14, 2009 (130)
28 ENSEMBL ss133520900 Dec 01, 2009 (131)
29 ENSEMBL ss137263994 Dec 01, 2009 (131)
30 GMI ss154628930 Dec 01, 2009 (131)
31 SEATTLESEQ ss159728037 Dec 01, 2009 (131)
32 ILLUMINA ss160402144 Dec 01, 2009 (131)
33 COMPLETE_GENOMICS ss167855311 Jul 04, 2010 (132)
34 COMPLETE_GENOMICS ss169155955 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss170978683 Jul 04, 2010 (132)
36 ILLUMINA ss172677713 Jul 04, 2010 (132)
37 BUSHMAN ss199050771 Jul 04, 2010 (132)
38 BIC_BRODY ss202257775 May 10, 2010 (132)
39 BCM-HGSC-SUB ss208517011 Jul 04, 2010 (132)
40 1000GENOMES ss226115638 Jul 14, 2010 (132)
41 1000GENOMES ss236202438 Jul 15, 2010 (132)
42 1000GENOMES ss242707318 Jul 15, 2010 (132)
43 ILLUMINA ss244281475 Jul 04, 2010 (132)
44 BL ss254910833 May 09, 2011 (134)
45 GMI ss281664407 May 04, 2012 (137)
46 GMI ss286681260 Apr 25, 2013 (138)
47 PJP ss291571704 May 09, 2011 (134)
48 NHLBI-ESP ss342374633 May 09, 2011 (134)
49 ILLUMINA ss480120106 May 04, 2012 (137)
50 ILLUMINA ss480128983 May 04, 2012 (137)
51 ILLUMINA ss480825493 Sep 08, 2015 (146)
52 ILLUMINA ss483179448 May 04, 2012 (137)
53 ILLUMINA ss483830641 May 04, 2012 (137)
54 ILLUMINA ss484857969 May 04, 2012 (137)
55 1000GENOMES ss491058220 May 04, 2012 (137)
56 EXOME_CHIP ss491477912 May 04, 2012 (137)
57 CLINSEQ_SNP ss491678313 May 04, 2012 (137)
58 ILLUMINA ss536027232 Sep 08, 2015 (146)
59 SSMP ss659186677 Apr 25, 2013 (138)
60 ILLUMINA ss779149040 Sep 08, 2015 (146)
61 ILLUMINA ss780695875 Aug 21, 2014 (142)
62 ILLUMINA ss782358851 Sep 08, 2015 (146)
63 ILLUMINA ss782875448 Sep 08, 2015 (146)
64 ILLUMINA ss783369863 Aug 21, 2014 (142)
65 ILLUMINA ss832129667 Sep 08, 2015 (146)
66 ILLUMINA ss834613874 Sep 08, 2015 (146)
67 JMKIDD_LAB ss974486481 Aug 21, 2014 (142)
68 JMKIDD_LAB ss1067540724 Aug 21, 2014 (142)
69 JMKIDD_LAB ss1078986028 Aug 21, 2014 (142)
70 1000GENOMES ss1347729091 Aug 21, 2014 (142)
71 DDI ss1427149838 Apr 01, 2015 (144)
72 EVA_GENOME_DK ss1576713742 Apr 01, 2015 (144)
73 EVA_FINRISK ss1584086509 Apr 01, 2015 (144)
74 EVA_UK10K_ALSPAC ss1630017454 Apr 01, 2015 (144)
75 EVA_UK10K_TWINSUK ss1673011487 Apr 01, 2015 (144)
76 EVA_EXAC ss1691251767 Apr 01, 2015 (144)
77 EVA_MGP ss1711354333 Apr 01, 2015 (144)
78 EVA_SVP ss1713380991 Apr 01, 2015 (144)
79 ILLUMINA ss1752100986 Sep 08, 2015 (146)
80 ILLUMINA ss1752100987 Sep 08, 2015 (146)
81 HAMMER_LAB ss1807554809 Sep 08, 2015 (146)
82 ILLUMINA ss1917882420 Feb 12, 2016 (147)
83 WEILL_CORNELL_DGM ss1933627318 Feb 12, 2016 (147)
84 ILLUMINA ss1946358058 Feb 12, 2016 (147)
85 ILLUMINA ss1959492106 Feb 12, 2016 (147)
86 GENOMED ss1967751257 Jul 19, 2016 (147)
87 JJLAB ss2027570991 Sep 14, 2016 (149)
88 USC_VALOUEV ss2155935515 Dec 20, 2016 (150)
89 HUMAN_LONGEVITY ss2195325611 Dec 20, 2016 (150)
90 TOPMED ss2359428510 Dec 20, 2016 (150)
91 SYSTEMSBIOZJU ss2628273640 Nov 08, 2017 (151)
92 ILLUMINA ss2633047941 Nov 08, 2017 (151)
93 ILLUMINA ss2633047942 Nov 08, 2017 (151)
94 ILLUMINA ss2635044119 Nov 08, 2017 (151)
95 GRF ss2700308342 Nov 08, 2017 (151)
96 ILLUMINA ss2710780079 Nov 08, 2017 (151)
97 GNOMAD ss2740354363 Nov 08, 2017 (151)
98 GNOMAD ss2749029764 Nov 08, 2017 (151)
99 GNOMAD ss2918247922 Nov 08, 2017 (151)
100 AFFY ss2985000838 Nov 08, 2017 (151)
101 SWEGEN ss3010818997 Nov 08, 2017 (151)
102 ILLUMINA ss3021497352 Nov 08, 2017 (151)
103 BIOINF_KMB_FNS_UNIBA ss3027601609 Nov 08, 2017 (151)
104 TOPMED ss3189476003 Nov 08, 2017 (151)
105 CSHL ss3350396086 Nov 08, 2017 (151)
106 ILLUMINA ss3627036639 Oct 12, 2018 (152)
107 ILLUMINA ss3627036640 Oct 12, 2018 (152)
108 ILLUMINA ss3631052052 Oct 12, 2018 (152)
109 ILLUMINA ss3633045402 Oct 12, 2018 (152)
110 ILLUMINA ss3633747568 Oct 12, 2018 (152)
111 ILLUMINA ss3634538960 Oct 12, 2018 (152)
112 ILLUMINA ss3634538961 Oct 12, 2018 (152)
113 ILLUMINA ss3635437762 Oct 12, 2018 (152)
114 ILLUMINA ss3636225522 Oct 12, 2018 (152)
115 ILLUMINA ss3637188823 Oct 12, 2018 (152)
116 ILLUMINA ss3638004012 Oct 12, 2018 (152)
117 ILLUMINA ss3640246291 Oct 12, 2018 (152)
118 ILLUMINA ss3640246292 Oct 12, 2018 (152)
119 ILLUMINA ss3642994324 Oct 12, 2018 (152)
120 ILLUMINA ss3644611093 Oct 12, 2018 (152)
121 OMUKHERJEE_ADBS ss3646452491 Oct 12, 2018 (152)
122 URBANLAB ss3650004286 Oct 12, 2018 (152)
123 ILLUMINA ss3651882882 Oct 12, 2018 (152)
124 ILLUMINA ss3653771352 Oct 12, 2018 (152)
125 EVA_DECODE ss3695046180 Jul 13, 2019 (153)
126 ILLUMINA ss3725384186 Jul 13, 2019 (153)
127 ACPOP ss3739637311 Jul 13, 2019 (153)
128 ILLUMINA ss3744404882 Jul 13, 2019 (153)
129 ILLUMINA ss3744839679 Jul 13, 2019 (153)
130 ILLUMINA ss3744839680 Jul 13, 2019 (153)
131 EVA ss3751310855 Jul 13, 2019 (153)
132 PAGE_CC ss3771738728 Jul 13, 2019 (153)
133 ILLUMINA ss3772338771 Jul 13, 2019 (153)
134 ILLUMINA ss3772338772 Jul 13, 2019 (153)
135 PACBIO ss3787422692 Jul 13, 2019 (153)
136 PACBIO ss3792494349 Jul 13, 2019 (153)
137 PACBIO ss3797378097 Jul 13, 2019 (153)
138 KHV_HUMAN_GENOMES ss3816641388 Jul 13, 2019 (153)
139 1000Genomes NC_000013.10 - 32929387 Oct 12, 2018 (152)
140 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 32929387 Oct 12, 2018 (152)
141 ExAC NC_000013.10 - 32929387 Oct 12, 2018 (152)
142 gnomAD - Genomes NC_000013.10 - 32929387 Jul 13, 2019 (153)
143 gnomAD - Exomes NC_000013.10 - 32929387 Jul 13, 2019 (153)
144 GO Exome Sequencing Project NC_000013.10 - 32929387 Oct 12, 2018 (152)
145 Northern Sweden NC_000013.10 - 32929387 Jul 13, 2019 (153)
146 The PAGE Study NC_000013.11 - 32355250 Jul 13, 2019 (153)
147 TopMed NC_000013.11 - 32355250 Oct 12, 2018 (152)
148 UK 10K study - Twins NC_000013.10 - 32929387 Oct 12, 2018 (152)
149 A Vietnamese Genetic Variation Database NC_000013.10 - 32929387 Jul 13, 2019 (153)
150 ClinVar RCV000113751.3 Oct 12, 2018 (152)
151 ClinVar RCV000120357.6 Oct 12, 2018 (152)
152 ClinVar RCV000168597.2 Jul 13, 2019 (153)
153 ClinVar RCV000203672.4 Oct 12, 2018 (152)
154 ClinVar RCV000207137.1 Oct 12, 2018 (152)
155 ClinVar RCV000476057.1 Oct 12, 2018 (152)
156 ClinVar RCV000656618.2 Jul 13, 2019 (153)
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)
rs52801869 Sep 21, 2007 (128)
rs58627922 May 24, 2008 (130)
rs117047163 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83237434, ss85502780, ss89578850, ss112673219, ss114508324, ss118412664, ss167855311, ss169155955, ss170978683, ss199050771, ss208517011, ss254910833, ss281664407, ss286681260, ss291571704, ss480120106, ss483179448, ss491678313, ss1713380991, ss2635044119, ss3642994324 NC_000013.9:31827386:T:C NC_000013.11:32355249:T:C (self)
60581526, 33650110, 1577510, 165363795, 9597270, 1259207, 12922176, 33650110, 7464097, ss226115638, ss236202438, ss242707318, ss342374633, ss480128983, ss480825493, ss483830641, ss484857969, ss491058220, ss491477912, ss536027232, ss659186677, ss779149040, ss780695875, ss782358851, ss782875448, ss783369863, ss832129667, ss834613874, ss974486481, ss1067540724, ss1078986028, ss1347729091, ss1427149838, ss1576713742, ss1584086509, ss1630017454, ss1673011487, ss1691251767, ss1711354333, ss1752100986, ss1752100987, ss1807554809, ss1917882420, ss1933627318, ss1946358058, ss1959492106, ss1967751257, ss2027570991, ss2155935515, ss2359428510, ss2628273640, ss2633047941, ss2633047942, ss2700308342, ss2710780079, ss2740354363, ss2749029764, ss2918247922, ss2985000838, ss3010818997, ss3021497352, ss3350396086, ss3627036639, ss3627036640, ss3631052052, ss3633045402, ss3633747568, ss3634538960, ss3634538961, ss3635437762, ss3636225522, ss3637188823, ss3638004012, ss3640246291, ss3640246292, ss3644611093, ss3646452491, ss3651882882, ss3653771352, ss3739637311, ss3744404882, ss3744839679, ss3744839680, ss3751310855, ss3772338771, ss3772338772, ss3787422692, ss3792494349, ss3797378097 NC_000013.10:32929386:T:C NC_000013.11:32355249:T:C (self)
RCV000120357.6, RCV000207137.1, 960197, 98482129, ss202257775, ss2195325611, ss3027601609, ss3189476003, ss3650004286, ss3695046180, ss3725384186, ss3771738728, ss3816641388 NC_000013.11:32355249:T:C NC_000013.11:32355249:T:C (self)
ss13217968 NT_024524.12:1503877:T:C NC_000013.11:32355249:T:C (self)
ss14463555, ss19285822, ss19977706, ss21127991 NT_024524.13:13909386:T:C NC_000013.11:32355249:T:C (self)
ss226036, ss603809, ss887440, ss1048023, ss1709662, ss1746541, ss5586320, ss16355878, ss43536468, ss66862609, ss69130545, ss74810221, ss74868064, ss76882724, ss96957329, ss106324754, ss133520900, ss137263994, ss154628930, ss159728037, ss160402144, ss172677713, ss244281475 NT_024524.14:13909386:T:C NC_000013.11:32355249: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.

10 citations for rs169547
PMID Title Author Year Journal
8665505 Mutations of the BRCA2 gene in ovarian carcinomas. Takahashi H et al. 1996 Cancer research
23961350 BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. Solano AR et al. 2012 SpringerPlus
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 PloS one
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
27478808 Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer. Zorrieh Zahra A et al. 2016 International journal of molecular and cellular medicine
27698805 Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma. Cheng Z et al. 2016 Oncology letters
27900359 Homozygous inactivation of <i>CHEK2</i> is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs. Kukita Y et al. 2016 Cold Spring Harbor molecular case studies
29458332 Identification of genetic variants for clinical management of familial colorectal tumors. Dominguez-Valentin M et al. 2018 BMC medical genetics
31203256 Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso. Sagna T et al. 2019 Biomolecular concepts

Genomic regions, transcripts, and products
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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.post308+0fe9b3b