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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.

rs75656517

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:69193161 (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
A=0.015040 (3981/264690, TOPMED)
A=0.003101 (779/251232, GnomAD_exome)
A=0.001759 (416/236456, ALFA) (+ 11 more)
A=0.014400 (2019/140210, GnomAD)
A=0.003858 (468/121300, ExAC)
A=0.02137 (1682/78700, PAGE_STUDY)
A=0.01569 (204/13006, GO-ESP)
A=0.0141 (90/6404, 1000G_30x)
A=0.0134 (67/5008, 1000G)
A=0.0000 (0/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
A=0.014 (3/216, Qatari)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCA10 : Stop Gained
Publications
0 citations
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 252598 G=0.997466 A=0.002534
European Sub 206792 G=0.999836 A=0.000164
African Sub 12508 G=0.95691 A=0.04309
African Others Sub 454 G=0.932 A=0.068
African American Sub 12054 G=0.95786 A=0.04214
Asian Sub 6432 G=0.9998 A=0.0002
East Asian Sub 4578 G=0.9998 A=0.0002
Other Asian Sub 1854 G=1.0000 A=0.0000
Latin American 1 Sub 892 G=0.981 A=0.019
Latin American 2 Sub 5152 G=0.9988 A=0.0012
South Asian Sub 312 G=1.000 A=0.000
Other Sub 20510 G=0.99790 A=0.00210


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=0.984960 A=0.015040
gnomAD - Exomes Global Study-wide 251232 G=0.996899 A=0.003101
gnomAD - Exomes European Sub 135264 G=0.999845 A=0.000155
gnomAD - Exomes Asian Sub 48984 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34540 G=0.99893 A=0.00107
gnomAD - Exomes African Sub 16234 G=0.95645 A=0.04355
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6134 G=0.9979 A=0.0021
Allele Frequency Aggregator Total Global 236456 G=0.998241 A=0.001759
Allele Frequency Aggregator European Sub 196886 G=0.999848 A=0.000152
Allele Frequency Aggregator Other Sub 19082 G=0.99817 A=0.00183
Allele Frequency Aggregator African Sub 7700 G=0.9575 A=0.0425
Allele Frequency Aggregator Asian Sub 6432 G=0.9998 A=0.0002
Allele Frequency Aggregator Latin American 2 Sub 5152 G=0.9988 A=0.0012
Allele Frequency Aggregator Latin American 1 Sub 892 G=0.981 A=0.019
Allele Frequency Aggregator South Asian Sub 312 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140210 G=0.985600 A=0.014400
gnomAD - Genomes European Sub 75940 G=0.99980 A=0.00020
gnomAD - Genomes African Sub 42006 G=0.95396 A=0.04604
gnomAD - Genomes American Sub 13660 G=0.99597 A=0.00403
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=0.9990 A=0.0010
gnomAD - Genomes Other Sub 2148 G=0.9944 A=0.0056
ExAC Global Study-wide 121300 G=0.996142 A=0.003858
ExAC Europe Sub 73266 G=0.99990 A=0.00010
ExAC Asian Sub 25148 G=1.00000 A=0.00000
ExAC American Sub 11576 G=0.99888 A=0.00112
ExAC African Sub 10404 G=0.95704 A=0.04296
ExAC Other Sub 906 G=0.999 A=0.001
The PAGE Study Global Study-wide 78700 G=0.97863 A=0.02137
The PAGE Study AfricanAmerican Sub 32514 G=0.95645 A=0.04355
The PAGE Study Mexican Sub 10810 G=0.99769 A=0.00231
The PAGE Study Asian Sub 8318 G=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7918 G=0.9908 A=0.0092
The PAGE Study NativeHawaiian Sub 4534 G=0.9996 A=0.0004
The PAGE Study Cuban Sub 4230 G=0.9927 A=0.0073
The PAGE Study Dominican Sub 3828 G=0.9770 A=0.0230
The PAGE Study CentralAmerican Sub 2450 G=0.9890 A=0.0110
The PAGE Study SouthAmerican Sub 1982 G=0.9945 A=0.0055
The PAGE Study NativeAmerican Sub 1260 G=0.9937 A=0.0063
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.98431 A=0.01569
GO Exome Sequencing Project European American Sub 8600 G=0.9998 A=0.0002
GO Exome Sequencing Project African American Sub 4406 G=0.9542 A=0.0458
1000Genomes_30x Global Study-wide 6404 G=0.9859 A=0.0141
1000Genomes_30x African Sub 1786 G=0.9513 A=0.0487
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.997 A=0.003
1000Genomes Global Study-wide 5008 G=0.9866 A=0.0134
1000Genomes African Sub 1322 G=0.9516 A=0.0484
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.996 A=0.004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.0000 A=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 A=0.0003
Qatari Global Study-wide 216 G=0.986 A=0.014
SGDP_PRJ Global Study-wide 2 G=0.5 A=0.5
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 17 NC_000017.11:g.69193161G>A
GRCh37.p13 chr 17 NC_000017.10:g.67189302G>A
Gene: ABCA10, ATP binding cassette subfamily A member 10 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCA10 transcript variant 1 NM_080282.4:c.1729C>T R [CGA] > * [TGA] Coding Sequence Variant
ATP-binding cassette sub-family A member 10 NP_525021.3:p.Arg577Ter R (Arg) > * (Ter) Stop Gained
ABCA10 transcript variant 2 NM_001377321.1:c.1729C>T R [CGA] > * [TGA] Coding Sequence Variant
ATP-binding cassette sub-family A member 10 NP_001364250.1:p.Arg577Ter R (Arg) > * (Ter) Stop Gained
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 17 NC_000017.11:g.69193161= NC_000017.11:g.69193161G>A
GRCh37.p13 chr 17 NC_000017.10:g.67189302= NC_000017.10:g.67189302G>A
ABCA10 transcript variant 1 NM_080282.4:c.1729= NM_080282.4:c.1729C>T
ABCA10 transcript NM_080282.3:c.1729= NM_080282.3:c.1729C>T
ABCA10 transcript variant 2 NM_001377321.1:c.1729= NM_001377321.1:c.1729C>T
ATP-binding cassette sub-family A member 10 NP_525021.3:p.Arg577= NP_525021.3:p.Arg577Ter
ATP-binding cassette sub-family A member 10 NP_001364250.1:p.Arg577= NP_001364250.1:p.Arg577Ter
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#.

72 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss161059785 Dec 01, 2009 (131)
2 1000GENOMES ss227632092 Jul 14, 2010 (132)
3 NHLBI-ESP ss342462956 May 09, 2011 (134)
4 ILLUMINA ss479202314 Sep 08, 2015 (146)
5 ILLUMINA ss480497719 May 04, 2012 (137)
6 ILLUMINA ss483660203 May 04, 2012 (137)
7 1000GENOMES ss491130725 May 04, 2012 (137)
8 EXOME_CHIP ss491526971 May 04, 2012 (137)
9 ILLUMINA ss533778316 Sep 08, 2015 (146)
10 ILLUMINA ss779757502 Sep 08, 2015 (146)
11 ILLUMINA ss780731747 Sep 08, 2015 (146)
12 ILLUMINA ss781246194 Sep 08, 2015 (146)
13 ILLUMINA ss783408160 Sep 08, 2015 (146)
14 ILLUMINA ss835232725 Sep 08, 2015 (146)
15 1000GENOMES ss1359364723 Aug 21, 2014 (142)
16 EVA_UK10K_ALSPAC ss1636011516 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1679005549 Apr 01, 2015 (144)
18 EVA_EXAC ss1692938475 Apr 01, 2015 (144)
19 ILLUMINA ss1752236790 Sep 08, 2015 (146)
20 ILLUMINA ss1917921969 Feb 12, 2016 (147)
21 WEILL_CORNELL_DGM ss1936749384 Feb 12, 2016 (147)
22 ILLUMINA ss1946467189 Feb 12, 2016 (147)
23 ILLUMINA ss1946467192 Feb 12, 2016 (147)
24 ILLUMINA ss1959764355 Feb 12, 2016 (147)
25 ILLUMINA ss1959764357 Feb 12, 2016 (147)
26 ILLUMINA ss2094896360 Dec 20, 2016 (150)
27 ILLUMINA ss2095076376 Dec 20, 2016 (150)
28 HUMAN_LONGEVITY ss2218252991 Dec 20, 2016 (150)
29 ILLUMINA ss2633417875 Nov 08, 2017 (151)
30 ILLUMINA ss2710855854 Nov 08, 2017 (151)
31 GNOMAD ss2742966029 Nov 08, 2017 (151)
32 GNOMAD ss2749849592 Nov 08, 2017 (151)
33 GNOMAD ss2951965404 Nov 08, 2017 (151)
34 AFFY ss2985103368 Nov 08, 2017 (151)
35 ILLUMINA ss3021799326 Nov 08, 2017 (151)
36 ILLUMINA ss3625717504 Oct 12, 2018 (152)
37 ILLUMINA ss3627710504 Oct 12, 2018 (152)
38 ILLUMINA ss3627710505 Oct 12, 2018 (152)
39 ILLUMINA ss3631397693 Oct 12, 2018 (152)
40 ILLUMINA ss3634684640 Oct 12, 2018 (152)
41 ILLUMINA ss3636373591 Oct 12, 2018 (152)
42 ILLUMINA ss3640391950 Oct 12, 2018 (152)
43 ILLUMINA ss3642002116 Oct 12, 2018 (152)
44 ILLUMINA ss3644694160 Oct 12, 2018 (152)
45 ILLUMINA ss3644694161 Oct 12, 2018 (152)
46 ILLUMINA ss3652217322 Oct 12, 2018 (152)
47 ILLUMINA ss3652217323 Oct 12, 2018 (152)
48 ILLUMINA ss3653875222 Oct 12, 2018 (152)
49 ILLUMINA ss3725638621 Jul 13, 2019 (153)
50 ILLUMINA ss3744152579 Jul 13, 2019 (153)
51 ILLUMINA ss3744448494 Jul 13, 2019 (153)
52 ILLUMINA ss3744984893 Jul 13, 2019 (153)
53 EVA ss3754876969 Jul 13, 2019 (153)
54 PAGE_CC ss3771941316 Jul 13, 2019 (153)
55 ILLUMINA ss3772482627 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3820143780 Jul 13, 2019 (153)
57 EVA ss3825146585 Apr 27, 2020 (154)
58 EVA ss3825905615 Apr 27, 2020 (154)
59 SGDP_PRJ ss3886121460 Apr 27, 2020 (154)
60 FSA-LAB ss3984122080 Apr 27, 2021 (155)
61 EVA ss3986739171 Apr 27, 2021 (155)
62 TOPMED ss5042324086 Apr 27, 2021 (155)
63 1000G_HIGH_COVERAGE ss5303774363 Oct 16, 2022 (156)
64 EVA ss5315898460 Oct 16, 2022 (156)
65 EVA ss5428738076 Oct 16, 2022 (156)
66 HUGCELL_USP ss5496753097 Oct 16, 2022 (156)
67 1000G_HIGH_COVERAGE ss5607802583 Oct 16, 2022 (156)
68 SANFORD_IMAGENETICS ss5660453829 Oct 16, 2022 (156)
69 EVA ss5847805307 Oct 16, 2022 (156)
70 EVA ss5914646033 Oct 16, 2022 (156)
71 EVA ss5951851269 Oct 16, 2022 (156)
72 EVA ss5979513122 Oct 16, 2022 (156)
73 1000Genomes NC_000017.10 - 67189302 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000017.11 - 69193161 Oct 16, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 67189302 Oct 12, 2018 (152)
76 ExAC NC_000017.10 - 67189302 Oct 12, 2018 (152)
77 gnomAD - Genomes NC_000017.11 - 69193161 Apr 27, 2021 (155)
78 gnomAD - Exomes NC_000017.10 - 67189302 Jul 13, 2019 (153)
79 GO Exome Sequencing Project NC_000017.10 - 67189302 Oct 12, 2018 (152)
80 The PAGE Study NC_000017.11 - 69193161 Jul 13, 2019 (153)
81 Qatari NC_000017.10 - 67189302 Apr 27, 2020 (154)
82 SGDP_PRJ NC_000017.10 - 67189302 Apr 27, 2020 (154)
83 TopMed NC_000017.11 - 69193161 Apr 27, 2021 (155)
84 UK 10K study - Twins NC_000017.10 - 67189302 Oct 12, 2018 (152)
85 ALFA NC_000017.11 - 69193161 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss483660203, ss2094896360 NC_000017.9:64700896:G:A NC_000017.11:69193160:G:A (self)
72634108, 40247487, 3394202, 12273651, 1603646, 18791306, 38138440, 40247487, ss227632092, ss342462956, ss479202314, ss480497719, ss491130725, ss491526971, ss533778316, ss779757502, ss780731747, ss781246194, ss783408160, ss835232725, ss1359364723, ss1636011516, ss1679005549, ss1692938475, ss1752236790, ss1917921969, ss1936749384, ss1946467189, ss1946467192, ss1959764355, ss1959764357, ss2095076376, ss2633417875, ss2710855854, ss2742966029, ss2749849592, ss2951965404, ss2985103368, ss3021799326, ss3625717504, ss3627710504, ss3627710505, ss3631397693, ss3634684640, ss3636373591, ss3640391950, ss3642002116, ss3644694160, ss3644694161, ss3652217322, ss3652217323, ss3653875222, ss3744152579, ss3744448494, ss3744984893, ss3754876969, ss3772482627, ss3825146585, ss3825905615, ss3886121460, ss3984122080, ss3986739171, ss5315898460, ss5428738076, ss5660453829, ss5847805307, ss5951851269, ss5979513122 NC_000017.10:67189301:G:A NC_000017.11:69193160:G:A (self)
95328518, 512596011, 1162785, 257869748, 1892078540, ss2218252991, ss3725638621, ss3771941316, ss3820143780, ss5042324086, ss5303774363, ss5496753097, ss5607802583, ss5914646033 NC_000017.11:69193160:G:A NC_000017.11:69193160:G:A (self)
ss161059785 NT_010783.15:32463453:G:A NC_000017.11:69193160: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.

No publications for rs75656517

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