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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.

rs8176305

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr17:43049347 (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
C=0.050260 (6311/125568, TOPMED)
C=0.07223 (6377/88286, ALFA Project)
C=0.05237 (1644/31394, GnomAD) (+ 14 more)
C=0.0321 (161/5008, 1000G)
C=0.0487 (218/4480, Estonian)
C=0.0903 (348/3854, ALSPAC)
C=0.0847 (314/3708, TWINSUK)
C=0.0003 (1/2922, KOREAN)
C=0.0481 (51/1060, HapMap)
C=0.076 (76/998, GoNL)
C=0.097 (58/600, NorthernSweden)
C=0.046 (10/216, Qatari)
C=0.019 (4/216, Vietnamese)
C=0.07 (3/40, GENOME_DK)
T=0.47 (14/30, SGDP_PRJ)
T=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRCA1 : Intron Variant
Publications
3 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 17 NC_000017.11:g.43049347T>C
GRCh37.p13 chr 17 NC_000017.10:g.41201364T>C
BRCA1 RefSeqGene (LRG_292) NG_005905.2:g.168637A>G
Gene: BRCA1, BRCA1 DNA repair associated (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRCA1 transcript variant 1 NM_007294.4:c.5333-153A>G N/A Intron Variant
BRCA1 transcript variant 3 NM_007297.4:c.5192-153A>G N/A Intron Variant
BRCA1 transcript variant 4 NM_007298.3:c.2021-153A>G N/A Intron Variant
BRCA1 transcript variant 5 NM_007299.4:c.2021-1644A>G N/A Intron Variant
BRCA1 transcript variant 2 NM_007300.4:c.5396-153A>G N/A Intron Variant
BRCA1 transcript variant 6 NR_027676.2:n. 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: 206206 )
ClinVar Accession Disease Names Clinical Significance
RCV000191191.1 Breast-ovarian cancer, familial 1 Benign
RCV000580512.1 Hereditary cancer-predisposing syndrome 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 88286 T=0.92777 C=0.07223
European Sub 76924 T=0.92222 C=0.07778
African Sub 3022 T=0.9844 C=0.0156
African Others Sub 120 T=1.000 C=0.000
African American Sub 2902 T=0.9838 C=0.0162
Asian Sub 204 T=0.995 C=0.005
East Asian Sub 134 T=1.000 C=0.000
Other Asian Sub 70 T=0.99 C=0.01
Latin American 1 Sub 558 T=0.930 C=0.070
Latin American 2 Sub 5424 T=0.9646 C=0.0354
South Asian Sub 58 T=0.95 C=0.05
Other Sub 2096 T=0.9466 C=0.0534


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 125568 T=0.949740 C=0.050260
ALFA Total Global 88286 T=0.92777 C=0.07223
ALFA European Sub 76924 T=0.92222 C=0.07778
ALFA Latin American 2 Sub 5424 T=0.9646 C=0.0354
ALFA African Sub 3022 T=0.9844 C=0.0156
ALFA Other Sub 2096 T=0.9466 C=0.0534
ALFA Latin American 1 Sub 558 T=0.930 C=0.070
ALFA Asian Sub 204 T=0.995 C=0.005
ALFA South Asian Sub 58 T=0.95 C=0.05
gnomAD - Genomes Global Study-wide 31394 T=0.94763 C=0.05237
gnomAD - Genomes European Sub 18896 T=0.92575 C=0.07425
gnomAD - Genomes African Sub 8716 T=0.9866 C=0.0134
gnomAD - Genomes East Asian Sub 1556 T=0.9994 C=0.0006
gnomAD - Genomes Other Sub 1088 T=0.9366 C=0.0634
gnomAD - Genomes American Sub 848 T=0.963 C=0.037
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.921 C=0.079
1000Genomes Global Study-wide 5008 T=0.9679 C=0.0321
1000Genomes African Sub 1322 T=0.9939 C=0.0061
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=0.9165 C=0.0835
1000Genomes South Asian Sub 978 T=0.970 C=0.030
1000Genomes American Sub 694 T=0.942 C=0.058
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9513 C=0.0487
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9097 C=0.0903
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9153 C=0.0847
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9997 C=0.0003
HapMap Global Study-wide 1060 T=0.9519 C=0.0481
HapMap American Sub 598 T=0.945 C=0.055
HapMap African Sub 286 T=0.983 C=0.017
HapMap Europe Sub 176 T=0.926 C=0.074
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.924 C=0.076
Northern Sweden ACPOP Study-wide 600 T=0.903 C=0.097
Qatari Global Study-wide 216 T=0.954 C=0.046
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.981 C=0.019
The Danish reference pan genome Danish Study-wide 40 T=0.93 C=0.07
SGDP_PRJ Global Study-wide 30 T=0.47 C=0.53
Siberian Global Study-wide 2 T=0.5 C=0.5
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
GRCh38.p12 chr 17 NC_000017.11:g.43049347= NC_000017.11:g.43049347T>C
GRCh37.p13 chr 17 NC_000017.10:g.41201364= NC_000017.10:g.41201364T>C
BRCA1 RefSeqGene (LRG_292) NG_005905.2:g.168637= NG_005905.2:g.168637A>G
BRCA1 transcript variant 1 NM_007294.3:c.5333-153= NM_007294.3:c.5333-153A>G
BRCA1 transcript variant 1 NM_007294.4:c.5333-153= NM_007294.4:c.5333-153A>G
BRCA1 transcript variant 3 NM_007297.3:c.5192-153= NM_007297.3:c.5192-153A>G
BRCA1 transcript variant 3 NM_007297.4:c.5192-153= NM_007297.4:c.5192-153A>G
BRCA1 transcript variant 4 NM_007298.3:c.2021-153= NM_007298.3:c.2021-153A>G
BRCA1 transcript variant 5 NM_007299.3:c.2021-1644= NM_007299.3:c.2021-1644A>G
BRCA1 transcript variant 5 NM_007299.4:c.2021-1644= NM_007299.4:c.2021-1644A>G
BRCA1 transcript variant 2 NM_007300.3:c.5396-153= NM_007300.3:c.5396-153A>G
BRCA1 transcript variant 2 NM_007300.4:c.5396-153= NM_007300.4:c.5396-153A>G
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#.

62 SubSNP, 16 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss8486436 Aug 27, 2003 (117)
2 PERLEGEN ss24587989 Sep 20, 2004 (123)
3 ILLUMINA ss75043686 Dec 06, 2007 (129)
4 CGM_KYOTO ss76864406 Dec 06, 2007 (129)
5 KRIBB_YJKIM ss119586098 Dec 01, 2009 (131)
6 ILLUMINA ss160953530 Dec 01, 2009 (131)
7 ILLUMINA ss174731791 Jul 04, 2010 (132)
8 1000GENOMES ss237244581 Jul 15, 2010 (132)
9 ILLUMINA ss481795507 May 04, 2012 (137)
10 ILLUMINA ss481827848 May 04, 2012 (137)
11 ILLUMINA ss482789237 Sep 08, 2015 (146)
12 ILLUMINA ss485692388 May 04, 2012 (137)
13 ILLUMINA ss537559802 Sep 08, 2015 (146)
14 SSMP ss661078370 Apr 25, 2013 (138)
15 ILLUMINA ss778999121 Sep 08, 2015 (146)
16 ILLUMINA ss783291778 Sep 08, 2015 (146)
17 ILLUMINA ss784244381 Sep 08, 2015 (146)
18 ILLUMINA ss832553032 Sep 08, 2015 (146)
19 ILLUMINA ss834461459 Sep 08, 2015 (146)
20 EVA-GONL ss993111594 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1081061472 Aug 21, 2014 (142)
22 1000GENOMES ss1358671886 Aug 21, 2014 (142)
23 EVA_GENOME_DK ss1578158704 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1635660828 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1678654861 Apr 01, 2015 (144)
26 EVA_DECODE ss1697154748 Apr 01, 2015 (144)
27 EVA_SVP ss1713582831 Apr 01, 2015 (144)
28 ILLUMINA ss1752226196 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1936572102 Feb 12, 2016 (147)
30 JJLAB ss2029063139 Sep 14, 2016 (149)
31 ILLUMINA ss2095075288 Dec 20, 2016 (150)
32 USC_VALOUEV ss2157533475 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2216876604 Dec 20, 2016 (150)
34 TOPMED ss2381989647 Dec 20, 2016 (150)
35 ILLUMINA ss2633397314 Nov 08, 2017 (151)
36 ILLUMINA ss2635070312 Nov 08, 2017 (151)
37 GNOMAD ss2949917315 Nov 08, 2017 (151)
38 SWEGEN ss3015540996 Nov 08, 2017 (151)
39 TOPMED ss3262924170 Nov 08, 2017 (151)
40 CSHL ss3351748122 Nov 08, 2017 (151)
41 ILLUMINA ss3627670894 Oct 12, 2018 (152)
42 ILLUMINA ss3631378382 Oct 12, 2018 (152)
43 ILLUMINA ss3633141693 Oct 12, 2018 (152)
44 ILLUMINA ss3633849231 Oct 12, 2018 (152)
45 ILLUMINA ss3634675664 Oct 12, 2018 (152)
46 ILLUMINA ss3635536987 Oct 12, 2018 (152)
47 ILLUMINA ss3636365393 Oct 12, 2018 (152)
48 ILLUMINA ss3637288532 Oct 12, 2018 (152)
49 ILLUMINA ss3638161731 Oct 12, 2018 (152)
50 ILLUMINA ss3640382976 Oct 12, 2018 (152)
51 ILLUMINA ss3643140122 Oct 12, 2018 (152)
52 ILLUMINA ss3652197623 Oct 12, 2018 (152)
53 EGCUT_WGS ss3682428752 Jul 13, 2019 (153)
54 EVA_DECODE ss3700473740 Jul 13, 2019 (153)
55 ACPOP ss3742029309 Jul 13, 2019 (153)
56 ILLUMINA ss3744975959 Jul 13, 2019 (153)
57 EVA ss3754672136 Jul 13, 2019 (153)
58 ILLUMINA ss3772473836 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3819941521 Jul 13, 2019 (153)
60 EVA ss3834869501 Apr 27, 2020 (154)
61 SGDP_PRJ ss3885757626 Apr 27, 2020 (154)
62 KRGDB ss3935445073 Apr 27, 2020 (154)
63 1000Genomes NC_000017.10 - 41201364 Oct 12, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 41201364 Oct 12, 2018 (152)
65 Genetic variation in the Estonian population NC_000017.10 - 41201364 Oct 12, 2018 (152)
66 The Danish reference pan genome NC_000017.10 - 41201364 Apr 27, 2020 (154)
67 gnomAD - Genomes NC_000017.10 - 41201364 Jul 13, 2019 (153)
68 Genome of the Netherlands Release 5 NC_000017.10 - 41201364 Apr 27, 2020 (154)
69 HapMap NC_000017.11 - 43049347 Apr 27, 2020 (154)
70 KOREAN population from KRGDB NC_000017.10 - 41201364 Apr 27, 2020 (154)
71 Northern Sweden NC_000017.10 - 41201364 Jul 13, 2019 (153)
72 Qatari NC_000017.10 - 41201364 Apr 27, 2020 (154)
73 SGDP_PRJ NC_000017.10 - 41201364 Apr 27, 2020 (154)
74 Siberian NC_000017.10 - 41201364 Apr 27, 2020 (154)
75 TopMed NC_000017.11 - 43049347 Oct 12, 2018 (152)
76 UK 10K study - Twins NC_000017.10 - 41201364 Oct 12, 2018 (152)
77 A Vietnamese Genetic Variation Database NC_000017.10 - 41201364 Jul 13, 2019 (153)
78 dbGaP Population Frequency Project NC_000017.11 - 43049347 Apr 27, 2020 (154)
79 ClinVar RCV000191191.1 Oct 12, 2018 (152)
80 ClinVar RCV000580512.1 Oct 12, 2018 (152)
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)
rs17739176 Oct 08, 2004 (123)
rs386615787 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss481795507, ss1697154748, ss1713582831, ss2635070312, ss3643140122 NC_000017.9:38454889:T:C NC_000017.11:43049346:T:C (self)
71914188, 39857417, 28167000, 4361053, 196234264, 17763531, 42622467, 15314174, 18614024, 37774606, 10049829, 39857417, 8819689, ss237244581, ss481827848, ss482789237, ss485692388, ss537559802, ss661078370, ss778999121, ss783291778, ss784244381, ss832553032, ss834461459, ss993111594, ss1081061472, ss1358671886, ss1578158704, ss1635660828, ss1678654861, ss1752226196, ss1936572102, ss2029063139, ss2095075288, ss2157533475, ss2381989647, ss2633397314, ss2949917315, ss3015540996, ss3351748122, ss3627670894, ss3631378382, ss3633141693, ss3633849231, ss3634675664, ss3635536987, ss3636365393, ss3637288532, ss3638161731, ss3640382976, ss3652197623, ss3682428752, ss3742029309, ss3744975959, ss3754672136, ss3772473836, ss3834869501, ss3885757626, ss3935445073 NC_000017.10:41201363:T:C NC_000017.11:43049346:T:C (self)
RCV000191191.1, RCV000580512.1, 1488826, 157040241, 831762917, ss2216876604, ss3262924170, ss3700473740, ss3819941521 NC_000017.11:43049346:T:C NC_000017.11:43049346:T:C (self)
ss8486436, ss24587989, ss75043686, ss76864406, ss119586098, ss160953530, ss174731791 NT_010783.15:6475515:T:C NC_000017.11:43049346: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.

3 citations for rs8176305
PMID Title Author Year Journal
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
21766209 Genetic predictors of taxane-induced neurotoxicity in a SWOG phase III intergroup adjuvant breast cancer treatment trial (S0221). Sucheston LE et al. 2011 Breast cancer research and treatment
26926928 Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment. Sanchez A et al. 2016 Prostate cancer and prostatic diseases
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