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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.

rs10445383

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:50908082 (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
G=0.113703 (30096/264690, TOPMED)
G=0.119464 (16750/140210, GnomAD)
G=0.06706 (5278/78702, PAGE_STUDY) (+ 17 more)
G=0.13844 (5065/36586, ALFA)
G=0.01274 (360/28258, 14KJPN)
G=0.01277 (214/16760, 8.3KJPN)
G=0.0812 (520/6404, 1000G_30x)
G=0.0785 (393/5008, 1000G)
G=0.1431 (641/4480, Estonian)
G=0.1840 (709/3854, ALSPAC)
G=0.1775 (658/3708, TWINSUK)
G=0.0188 (55/2930, KOREAN)
G=0.0240 (44/1832, Korea1K)
G=0.0787 (127/1614, HapMap)
G=0.165 (165/998, GoNL)
G=0.180 (108/600, NorthernSweden)
G=0.074 (41/552, SGDP_PRJ)
G=0.162 (35/216, Qatari)
G=0.005 (1/214, Vietnamese)
G=0.16 (9/56, 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 36586 G=0.13844 A=0.86156, C=0.00000
European Sub 25558 G=0.16355 A=0.83645, C=0.00000
African Sub 4870 G=0.0308 A=0.9692, C=0.0000
African Others Sub 142 G=0.000 A=1.000, C=0.000
African American Sub 4728 G=0.0317 A=0.9683, C=0.0000
Asian Sub 210 G=0.019 A=0.981, C=0.000
East Asian Sub 150 G=0.027 A=0.973, C=0.000
Other Asian Sub 60 G=0.00 A=1.00, C=0.00
Latin American 1 Sub 314 G=0.096 A=0.904, C=0.000
Latin American 2 Sub 2860 G=0.1143 A=0.8857, C=0.0000
South Asian Sub 132 G=0.121 A=0.879, C=0.000
Other Sub 2642 G=0.1355 A=0.8645, C=0.0000


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=0.113703 A=0.886297
gnomAD - Genomes Global Study-wide 140210 G=0.119464 A=0.880536
gnomAD - Genomes European Sub 75916 G=0.16849 A=0.83151
gnomAD - Genomes African Sub 42032 G=0.03083 A=0.96917
gnomAD - Genomes American Sub 13660 G=0.13250 A=0.86750
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.1566 A=0.8434
gnomAD - Genomes East Asian Sub 3134 G=0.0160 A=0.9840
gnomAD - Genomes Other Sub 2148 G=0.1318 A=0.8682
The PAGE Study Global Study-wide 78702 G=0.06706 A=0.93294
The PAGE Study AfricanAmerican Sub 32516 G=0.03346 A=0.96654
The PAGE Study Mexican Sub 10810 G=0.11388 A=0.88612
The PAGE Study Asian Sub 8318 G=0.0155 A=0.9845
The PAGE Study PuertoRican Sub 7918 G=0.1350 A=0.8650
The PAGE Study NativeHawaiian Sub 4534 G=0.0452 A=0.9548
The PAGE Study Cuban Sub 4230 G=0.1251 A=0.8749
The PAGE Study Dominican Sub 3828 G=0.0891 A=0.9109
The PAGE Study CentralAmerican Sub 2450 G=0.0894 A=0.9106
The PAGE Study SouthAmerican Sub 1982 G=0.1271 A=0.8729
The PAGE Study NativeAmerican Sub 1260 G=0.1024 A=0.8976
The PAGE Study SouthAsian Sub 856 G=0.100 A=0.900
Allele Frequency Aggregator Total Global 36586 G=0.13844 A=0.86156, C=0.00000
Allele Frequency Aggregator European Sub 25558 G=0.16355 A=0.83645, C=0.00000
Allele Frequency Aggregator African Sub 4870 G=0.0308 A=0.9692, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2860 G=0.1143 A=0.8857, C=0.0000
Allele Frequency Aggregator Other Sub 2642 G=0.1355 A=0.8645, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 314 G=0.096 A=0.904, C=0.000
Allele Frequency Aggregator Asian Sub 210 G=0.019 A=0.981, C=0.000
Allele Frequency Aggregator South Asian Sub 132 G=0.121 A=0.879, C=0.000
14KJPN JAPANESE Study-wide 28258 G=0.01274 A=0.98726
8.3KJPN JAPANESE Study-wide 16760 G=0.01277 A=0.98723
1000Genomes_30x Global Study-wide 6404 G=0.0812 A=0.9188
1000Genomes_30x African Sub 1786 G=0.0067 A=0.9933
1000Genomes_30x Europe Sub 1266 G=0.1777 A=0.8223
1000Genomes_30x South Asian Sub 1202 G=0.1165 A=0.8835
1000Genomes_30x East Asian Sub 1170 G=0.0154 A=0.9846
1000Genomes_30x American Sub 980 G=0.128 A=0.872
1000Genomes Global Study-wide 5008 G=0.0785 A=0.9215
1000Genomes African Sub 1322 G=0.0083 A=0.9917
1000Genomes East Asian Sub 1008 G=0.0139 A=0.9861
1000Genomes Europe Sub 1006 G=0.1670 A=0.8330
1000Genomes South Asian Sub 978 G=0.113 A=0.887
1000Genomes American Sub 694 G=0.128 A=0.872
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1431 A=0.8569
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1840 A=0.8160
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1775 A=0.8225
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0188 A=0.9812, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.0240 A=0.9760
HapMap Global Study-wide 1614 G=0.0787 A=0.9213
HapMap American Sub 598 G=0.139 A=0.861
HapMap African Sub 586 G=0.009 A=0.991
HapMap Asian Sub 254 G=0.024 A=0.976
HapMap Europe Sub 176 G=0.188 A=0.812
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.165 A=0.835
Northern Sweden ACPOP Study-wide 600 G=0.180 A=0.820
SGDP_PRJ Global Study-wide 552 G=0.074 A=0.926
Qatari Global Study-wide 216 G=0.162 A=0.838
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.005 A=0.995
Siberian Global Study-wide 56 G=0.16 A=0.84
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.50908082G>A
GRCh38.p14 chr 17 NC_000017.11:g.50908082G>C
GRCh38.p14 chr 17 NC_000017.11:g.50908082G>T
GRCh37.p13 chr 17 NC_000017.10:g.48985443G>A
GRCh37.p13 chr 17 NC_000017.10:g.48985443G>C
GRCh37.p13 chr 17 NC_000017.10:g.48985443G>T
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.50908082= NC_000017.11:g.50908082G>A NC_000017.11:g.50908082G>C NC_000017.11:g.50908082G>T
GRCh37.p13 chr 17 NC_000017.10:g.48985443= NC_000017.10:g.48985443G>A NC_000017.10:g.48985443G>C NC_000017.10:g.48985443G>T
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#.

97 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss14772673 Dec 05, 2003 (119)
2 SSAHASNP ss21377124 Apr 05, 2004 (121)
3 ABI ss40782270 Mar 14, 2006 (126)
4 AFFY ss66390927 Nov 30, 2006 (127)
5 PERLEGEN ss69197641 May 17, 2007 (127)
6 AFFY ss76131711 Dec 08, 2007 (130)
7 KRIBB_YJKIM ss82719071 Dec 14, 2007 (130)
8 HGSV ss83299340 Dec 15, 2007 (130)
9 HGSV ss84059526 Dec 15, 2007 (130)
10 HGSV ss85528336 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss90609903 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss96548639 Feb 05, 2009 (130)
13 BGI ss106509994 Feb 05, 2009 (130)
14 1000GENOMES ss109799375 Jan 24, 2009 (130)
15 1000GENOMES ss113601657 Jan 25, 2009 (130)
16 ILLUMINA-UK ss118069140 Feb 14, 2009 (130)
17 ENSEMBL ss136553910 Dec 01, 2009 (131)
18 ENSEMBL ss137103505 Dec 01, 2009 (131)
19 GMI ss158079858 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss168268808 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss169762089 Jul 04, 2010 (132)
22 ILLUMINA ss170087213 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss171509238 Jul 04, 2010 (132)
24 AFFY ss172596293 Jul 04, 2010 (132)
25 BUSHMAN ss202583447 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss207872492 Jul 04, 2010 (132)
27 1000GENOMES ss227570376 Jul 14, 2010 (132)
28 1000GENOMES ss237262748 Jul 15, 2010 (132)
29 1000GENOMES ss243554699 Jul 15, 2010 (132)
30 BL ss255674391 May 09, 2011 (134)
31 GMI ss282783850 May 04, 2012 (137)
32 GMI ss287188669 Apr 25, 2013 (138)
33 PJP ss291964837 May 09, 2011 (134)
34 ILLUMINA ss479719837 May 04, 2012 (137)
35 ILLUMINA ss483636136 May 04, 2012 (137)
36 ILLUMINA ss533223320 Sep 08, 2015 (146)
37 TISHKOFF ss565303049 Apr 25, 2013 (138)
38 SSMP ss661111207 Apr 25, 2013 (138)
39 ILLUMINA ss779639175 Sep 08, 2015 (146)
40 ILLUMINA ss781051643 Sep 08, 2015 (146)
41 ILLUMINA ss835111959 Sep 08, 2015 (146)
42 EVA-GONL ss993162700 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1081093378 Aug 21, 2014 (142)
44 1000GENOMES ss1358869667 Aug 21, 2014 (142)
45 DDI ss1428047619 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1635756010 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1678750043 Apr 01, 2015 (144)
48 EVA_DECODE ss1697206326 Apr 01, 2015 (144)
49 EVA_SVP ss1713586203 Apr 01, 2015 (144)
50 HAMMER_LAB ss1808805834 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1936625134 Feb 12, 2016 (147)
52 ILLUMINA ss1959753835 Feb 12, 2016 (147)
53 GENOMED ss1968400091 Jul 19, 2016 (147)
54 JJLAB ss2029088261 Sep 14, 2016 (149)
55 USC_VALOUEV ss2157564991 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2217263453 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2629039515 Nov 08, 2017 (151)
58 ILLUMINA ss2633403238 Nov 08, 2017 (151)
59 GRF ss2702124888 Nov 08, 2017 (151)
60 GNOMAD ss2950526259 Nov 08, 2017 (151)
61 SWEGEN ss3015630983 Nov 08, 2017 (151)
62 ILLUMINA ss3021787786 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3028366014 Nov 08, 2017 (151)
64 CSHL ss3351768074 Nov 08, 2017 (151)
65 ILLUMINA ss3627682928 Oct 12, 2018 (152)
66 ILLUMINA ss3631383844 Oct 12, 2018 (152)
67 ILLUMINA ss3638165149 Oct 12, 2018 (152)
68 ILLUMINA ss3641995347 Oct 12, 2018 (152)
69 URBANLAB ss3650667627 Oct 12, 2018 (152)
70 ILLUMINA ss3652204895 Oct 12, 2018 (152)
71 EGCUT_WGS ss3682505112 Jul 13, 2019 (153)
72 EVA_DECODE ss3700578525 Jul 13, 2019 (153)
73 ILLUMINA ss3725628357 Jul 13, 2019 (153)
74 ACPOP ss3742073762 Jul 13, 2019 (153)
75 EVA ss3754732478 Jul 13, 2019 (153)
76 PAGE_CC ss3771933168 Jul 13, 2019 (153)
77 KHV_HUMAN_GENOMES ss3819998705 Jul 13, 2019 (153)
78 EVA ss3834895630 Apr 27, 2020 (154)
79 EVA ss3841059997 Apr 27, 2020 (154)
80 EVA ss3846557049 Apr 27, 2020 (154)
81 SGDP_PRJ ss3885865965 Apr 27, 2020 (154)
82 KRGDB ss3935583606 Apr 27, 2020 (154)
83 KOGIC ss3978954073 Apr 27, 2020 (154)
84 TOPMED ss5037899766 Apr 26, 2021 (155)
85 TOMMO_GENOMICS ss5222695042 Apr 26, 2021 (155)
86 1000G_HIGH_COVERAGE ss5303330784 Oct 16, 2022 (156)
87 EVA ss5315890407 Oct 16, 2022 (156)
88 EVA ss5427942112 Oct 16, 2022 (156)
89 HUGCELL_USP ss5496357672 Oct 16, 2022 (156)
90 1000G_HIGH_COVERAGE ss5607142910 Oct 16, 2022 (156)
91 SANFORD_IMAGENETICS ss5660210752 Oct 16, 2022 (156)
92 TOMMO_GENOMICS ss5778995357 Oct 16, 2022 (156)
93 YY_MCH ss5816588134 Oct 16, 2022 (156)
94 EVA ss5834060742 Oct 16, 2022 (156)
95 EVA ss5851827935 Oct 16, 2022 (156)
96 EVA ss5914148943 Oct 16, 2022 (156)
97 EVA ss5951600519 Oct 16, 2022 (156)
98 1000Genomes NC_000017.10 - 48985443 Oct 12, 2018 (152)
99 1000Genomes_30x NC_000017.11 - 50908082 Oct 16, 2022 (156)
100 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 48985443 Oct 12, 2018 (152)
101 Genetic variation in the Estonian population NC_000017.10 - 48985443 Oct 12, 2018 (152)
102 gnomAD - Genomes NC_000017.11 - 50908082 Apr 26, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000017.10 - 48985443 Apr 27, 2020 (154)
104 HapMap NC_000017.11 - 50908082 Apr 27, 2020 (154)
105 KOREAN population from KRGDB NC_000017.10 - 48985443 Apr 27, 2020 (154)
106 Korean Genome Project NC_000017.11 - 50908082 Apr 27, 2020 (154)
107 Northern Sweden NC_000017.10 - 48985443 Jul 13, 2019 (153)
108 The PAGE Study NC_000017.11 - 50908082 Jul 13, 2019 (153)
109 Qatari NC_000017.10 - 48985443 Apr 27, 2020 (154)
110 SGDP_PRJ NC_000017.10 - 48985443 Apr 27, 2020 (154)
111 Siberian NC_000017.10 - 48985443 Apr 27, 2020 (154)
112 8.3KJPN NC_000017.10 - 48985443 Apr 26, 2021 (155)
113 14KJPN NC_000017.11 - 50908082 Oct 16, 2022 (156)
114 TopMed NC_000017.11 - 50908082 Apr 26, 2021 (155)
115 UK 10K study - Twins NC_000017.10 - 48985443 Oct 12, 2018 (152)
116 A Vietnamese Genetic Variation Database NC_000017.10 - 48985443 Jul 13, 2019 (153)
117 ALFA NC_000017.11 - 50908082 Apr 26, 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).

Associated ID History Updated (Build)
rs56556528 May 25, 2008 (130)
rs58125070 Feb 27, 2009 (130)
rs59478139 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66390927, ss76131711, ss83299340, ss84059526, ss85528336, ss90609903, ss109799375, ss113601657, ss118069140, ss168268808, ss169762089, ss171509238, ss172596293, ss202583447, ss207872492, ss255674391, ss282783850, ss287188669, ss291964837, ss483636136, ss1697206326, ss1713586203 NC_000017.9:46340441:G:A NC_000017.11:50908081:G:A (self)
72119742, 39964565, 28243360, 17811294, 42761000, 15358627, 18667056, 37882945, 10081345, 80664349, 39964565, 8839982, ss227570376, ss237262748, ss243554699, ss479719837, ss533223320, ss565303049, ss661111207, ss779639175, ss781051643, ss835111959, ss993162700, ss1081093378, ss1358869667, ss1428047619, ss1635756010, ss1678750043, ss1808805834, ss1936625134, ss1959753835, ss1968400091, ss2029088261, ss2157564991, ss2629039515, ss2633403238, ss2702124888, ss2950526259, ss3015630983, ss3021787786, ss3351768074, ss3627682928, ss3631383844, ss3638165149, ss3641995347, ss3652204895, ss3682505112, ss3742073762, ss3754732478, ss3834895630, ss3841059997, ss3885865965, ss3935583606, ss5222695042, ss5315890407, ss5427942112, ss5660210752, ss5834060742, ss5951600519 NC_000017.10:48985442:G:A NC_000017.11:50908081:G:A (self)
94668845, 508907724, 1496716, 35332074, 1154637, 112832461, 253445428, 4784243034, ss2217263453, ss3028366014, ss3650667627, ss3700578525, ss3725628357, ss3771933168, ss3819998705, ss3846557049, ss3978954073, ss5037899766, ss5303330784, ss5496357672, ss5607142910, ss5778995357, ss5816588134, ss5851827935, ss5914148943 NC_000017.11:50908081:G:A NC_000017.11:50908081:G:A (self)
ss14772673, ss21377124 NT_010783.14:7638720:G:A NC_000017.11:50908081:G:A (self)
ss40782270, ss69197641, ss82719071, ss96548639, ss106509994, ss136553910, ss137103505, ss158079858, ss170087213 NT_010783.15:14259594:G:A NC_000017.11:50908081:G:A (self)
42761000, ss3935583606 NC_000017.10:48985442:G:C NC_000017.11:50908081:G:C (self)
4784243034 NC_000017.11:50908081:G:C NC_000017.11:50908081:G:C (self)
42761000, ss3935583606 NC_000017.10:48985442:G:T NC_000017.11:50908081: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 rs10445383

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