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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.

rs113575323

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:44394009 (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 / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.191806 (50769/264690, TOPMED)
A=0.194649 (25654/131796, GnomAD)
A=0.08858 (2479/27986, 14KJPN) (+ 14 more)
A=0.21591 (3993/18494, ALFA)
A=0.09427 (1580/16760, 8.3KJPN)
A=0.1469 (941/6404, 1000G_30x)
A=0.1458 (730/5008, 1000G)
A=0.2080 (932/4480, Estonian)
A=0.2922 (1126/3854, ALSPAC)
A=0.2918 (1082/3708, TWINSUK)
A=0.0886 (259/2922, KOREAN)
A=0.290 (289/998, GoNL)
A=0.222 (133/600, NorthernSweden)
A=0.245 (53/216, Qatari)
G=0.395 (75/190, SGDP_PRJ)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 18494 G=0.78409 A=0.21591, C=0.00000, T=0.00000
European Sub 13952 G=0.74606 A=0.25394, C=0.00000, T=0.00000
African Sub 2884 G=0.9587 A=0.0413, C=0.0000, T=0.0000
African Others Sub 114 G=0.991 A=0.009, C=0.000, T=0.000
African American Sub 2770 G=0.9574 A=0.0426, C=0.0000, T=0.0000
Asian Sub 112 G=0.911 A=0.089, C=0.000, T=0.000
East Asian Sub 86 G=0.90 A=0.10, C=0.00, T=0.00
Other Asian Sub 26 G=0.96 A=0.04, C=0.00, T=0.00
Latin American 1 Sub 146 G=0.856 A=0.144, C=0.000, T=0.000
Latin American 2 Sub 610 G=0.775 A=0.225, C=0.000, T=0.000
South Asian Sub 98 G=0.84 A=0.16, C=0.00, T=0.00
Other Sub 692 G=0.788 A=0.212, C=0.000, T=0.000


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=0.808194 A=0.191806
gnomAD - Genomes Global Study-wide 131796 G=0.805351 A=0.194649
gnomAD - Genomes European Sub 72888 G=0.73812 A=0.26188
gnomAD - Genomes African Sub 38236 G=0.94754 A=0.05246
gnomAD - Genomes American Sub 12282 G=0.75476 A=0.24524
gnomAD - Genomes Ashkenazi Jewish Sub 3296 G=0.7467 A=0.2533
gnomAD - Genomes East Asian Sub 3078 G=0.9045 A=0.0955
gnomAD - Genomes Other Sub 2016 G=0.7922 A=0.2078
14KJPN JAPANESE Study-wide 27986 G=0.91142 A=0.08858
Allele Frequency Aggregator Total Global 18494 G=0.78409 A=0.21591, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 13952 G=0.74606 A=0.25394, C=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 2884 G=0.9587 A=0.0413, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 692 G=0.788 A=0.212, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.775 A=0.225, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.856 A=0.144, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.911 A=0.089, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.84 A=0.16, C=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.90573 A=0.09427
1000Genomes_30x Global Study-wide 6404 G=0.8531 A=0.1469
1000Genomes_30x African Sub 1786 G=0.9916 A=0.0084
1000Genomes_30x Europe Sub 1266 G=0.7385 A=0.2615
1000Genomes_30x South Asian Sub 1202 G=0.8053 A=0.1947
1000Genomes_30x East Asian Sub 1170 G=0.8932 A=0.1068
1000Genomes_30x American Sub 980 G=0.759 A=0.241
1000Genomes Global Study-wide 5008 G=0.8542 A=0.1458
1000Genomes African Sub 1322 G=0.9909 A=0.0091
1000Genomes East Asian Sub 1008 G=0.8988 A=0.1012
1000Genomes Europe Sub 1006 G=0.7416 A=0.2584
1000Genomes South Asian Sub 978 G=0.800 A=0.200
1000Genomes American Sub 694 G=0.769 A=0.231
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7920 A=0.2080
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7078 A=0.2922
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7082 A=0.2918
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9114 A=0.0886
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.710 A=0.290
Northern Sweden ACPOP Study-wide 600 G=0.778 A=0.222
Qatari Global Study-wide 216 G=0.755 A=0.245
SGDP_PRJ Global Study-wide 190 G=0.395 A=0.605
Siberian Global Study-wide 12 G=0.50 A=0.50
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.44394009G>A
GRCh38.p14 chr 17 NC_000017.11:g.44394009G>C
GRCh38.p14 chr 17 NC_000017.11:g.44394009G>T
GRCh37.p13 chr 17 NC_000017.10:g.42471377G>A
GRCh37.p13 chr 17 NC_000017.10:g.42471377G>C
GRCh37.p13 chr 17 NC_000017.10:g.42471377G>T
GPATCH8 RefSeqGene NG_041943.1:g.114594C>T
GPATCH8 RefSeqGene NG_041943.1:g.114594C>G
GPATCH8 RefSeqGene NG_041943.1:g.114594C>A
ITGA2B RefSeqGene (LRG_479) NG_008331.1:g.497C>T
ITGA2B RefSeqGene (LRG_479) NG_008331.1:g.497C>G
ITGA2B RefSeqGene (LRG_479) NG_008331.1:g.497C>A
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 C T
GRCh38.p14 chr 17 NC_000017.11:g.44394009= NC_000017.11:g.44394009G>A NC_000017.11:g.44394009G>C NC_000017.11:g.44394009G>T
GRCh37.p13 chr 17 NC_000017.10:g.42471377= NC_000017.10:g.42471377G>A NC_000017.10:g.42471377G>C NC_000017.10:g.42471377G>T
GPATCH8 RefSeqGene NG_041943.1:g.114594= NG_041943.1:g.114594C>T NG_041943.1:g.114594C>G NG_041943.1:g.114594C>A
ITGA2B RefSeqGene (LRG_479) NG_008331.1:g.497= NG_008331.1:g.497C>T NG_008331.1:g.497C>G NG_008331.1:g.497C>A
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#.

45 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 COMPLETE_GENOMICS ss171419951 Jul 04, 2010 (132)
2 BCM-HGSC-SUB ss208012837 Jul 04, 2010 (132)
3 BL ss255646659 May 09, 2011 (134)
4 1000GENOMES ss339705117 May 09, 2011 (134)
5 SSMP ss661083280 Apr 25, 2013 (138)
6 EVA-GONL ss993119942 Aug 21, 2014 (142)
7 JMKIDD_LAB ss1081066707 Aug 21, 2014 (142)
8 1000GENOMES ss1358706283 Aug 21, 2014 (142)
9 DDI ss1428036974 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1635677701 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1678671734 Apr 01, 2015 (144)
12 EVA_DECODE ss1697163311 Apr 01, 2015 (144)
13 WEILL_CORNELL_DGM ss1936580429 Feb 12, 2016 (147)
14 JJLAB ss2029066741 Sep 14, 2016 (149)
15 USC_VALOUEV ss2157538532 Dec 20, 2016 (150)
16 HUMAN_LONGEVITY ss2216945850 Dec 20, 2016 (150)
17 GRF ss2702100938 Nov 08, 2017 (151)
18 GNOMAD ss2950022337 Nov 08, 2017 (151)
19 SWEGEN ss3015555921 Nov 08, 2017 (151)
20 BIOINF_KMB_FNS_UNIBA ss3028353615 Nov 08, 2017 (151)
21 CSHL ss3351751813 Nov 08, 2017 (151)
22 EGCUT_WGS ss3682441719 Jul 13, 2019 (153)
23 EVA_DECODE ss3700491669 Jul 13, 2019 (153)
24 ACPOP ss3742036083 Jul 13, 2019 (153)
25 EVA ss3754681815 Jul 13, 2019 (153)
26 PACBIO ss3788207267 Jul 13, 2019 (153)
27 PACBIO ss3793163829 Jul 13, 2019 (153)
28 PACBIO ss3798049670 Jul 13, 2019 (153)
29 KHV_HUMAN_GENOMES ss3819950968 Jul 13, 2019 (153)
30 EVA ss3834873508 Apr 27, 2020 (154)
31 SGDP_PRJ ss3885775278 Apr 27, 2020 (154)
32 KRGDB ss3935468938 Apr 27, 2020 (154)
33 TOPMED ss5036443514 Apr 27, 2021 (155)
34 TOMMO_GENOMICS ss5222478486 Apr 27, 2021 (155)
35 1000G_HIGH_COVERAGE ss5303179303 Oct 16, 2022 (156)
36 EVA ss5427678243 Oct 16, 2022 (156)
37 1000G_HIGH_COVERAGE ss5606921145 Oct 16, 2022 (156)
38 SANFORD_IMAGENETICS ss5660128312 Oct 16, 2022 (156)
39 TOMMO_GENOMICS ss5778710447 Oct 16, 2022 (156)
40 YY_MCH ss5816553248 Oct 16, 2022 (156)
41 EVA ss5834001004 Oct 16, 2022 (156)
42 EVA ss5851813138 Oct 16, 2022 (156)
43 EVA ss5914009326 Oct 16, 2022 (156)
44 EVA ss5951521284 Oct 16, 2022 (156)
45 EVA ss5980968272 Oct 16, 2022 (156)
46 1000Genomes NC_000017.10 - 42471377 Oct 12, 2018 (152)
47 1000Genomes_30x NC_000017.11 - 44394009 Oct 16, 2022 (156)
48 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 42471377 Oct 12, 2018 (152)
49 Genetic variation in the Estonian population NC_000017.10 - 42471377 Oct 12, 2018 (152)
50 gnomAD - Genomes NC_000017.11 - 44394009 Apr 27, 2021 (155)
51 Genome of the Netherlands Release 5 NC_000017.10 - 42471377 Apr 27, 2020 (154)
52 KOREAN population from KRGDB NC_000017.10 - 42471377 Apr 27, 2020 (154)
53 Northern Sweden NC_000017.10 - 42471377 Jul 13, 2019 (153)
54 Qatari NC_000017.10 - 42471377 Apr 27, 2020 (154)
55 SGDP_PRJ NC_000017.10 - 42471377 Apr 27, 2020 (154)
56 Siberian NC_000017.10 - 42471377 Apr 27, 2020 (154)
57 8.3KJPN NC_000017.10 - 42471377 Apr 27, 2021 (155)
58 14KJPN NC_000017.11 - 44394009 Oct 16, 2022 (156)
59 TopMed NC_000017.11 - 44394009 Apr 27, 2021 (155)
60 UK 10K study - Twins NC_000017.10 - 42471377 Oct 12, 2018 (152)
61 ALFA NC_000017.11 - 44394009 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
ss171419951, ss208012837, ss255646659, ss1697163311 NC_000017.9:39826902:G:A NC_000017.11:44394008:G:A (self)
71949910, 39876290, 28179967, 17771316, 42646332, 15320948, 18622351, 37792258, 10054886, 80447793, 39876290, ss339705117, ss661083280, ss993119942, ss1081066707, ss1358706283, ss1428036974, ss1635677701, ss1678671734, ss1936580429, ss2029066741, ss2157538532, ss2702100938, ss2950022337, ss3015555921, ss3351751813, ss3682441719, ss3742036083, ss3754681815, ss3788207267, ss3793163829, ss3798049670, ss3834873508, ss3885775278, ss3935468938, ss5222478486, ss5427678243, ss5660128312, ss5834001004, ss5951521284, ss5980968272 NC_000017.10:42471376:G:A NC_000017.11:44394008:G:A (self)
94447080, 507635797, 112547551, 251989176, 7191076680, ss2216945850, ss3028353615, ss3700491669, ss3819950968, ss5036443514, ss5303179303, ss5606921145, ss5778710447, ss5816553248, ss5851813138, ss5914009326 NC_000017.11:44394008:G:A NC_000017.11:44394008:G:A (self)
7191076680 NC_000017.11:44394008:G:C NC_000017.11:44394008:G:C (self)
7191076680 NC_000017.11:44394008:G:T NC_000017.11:44394008:G:T (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 rs113575323

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