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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.

rs10493095

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:41416250 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.112630 (29812/264690, TOPMED)
G=0.098256 (13768/140124, GnomAD)
G=0.08132 (7383/90788, ALFA) (+ 18 more)
G=0.14053 (3971/28258, 14KJPN)
G=0.14195 (2379/16760, 8.3KJPN)
G=0.1357 (869/6404, 1000G_30x)
G=0.1290 (646/5008, 1000G)
G=0.0826 (370/4480, Estonian)
G=0.0716 (276/3854, ALSPAC)
G=0.0631 (234/3708, TWINSUK)
G=0.1672 (490/2930, KOREAN)
G=0.1468 (269/1832, Korea1K)
G=0.056 (56/998, GoNL)
G=0.080 (48/600, NorthernSweden)
G=0.083 (27/326, HapMap)
G=0.037 (8/216, Qatari)
G=0.074 (16/216, Vietnamese)
A=0.361 (39/108, SGDP_PRJ)
G=0.23 (9/40, GENOME_DK)
A=0.50 (9/18, Siberian)
G=0.50 (9/18, 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 90788 A=0.91868 G=0.08132
European Sub 77924 A=0.93826 G=0.06174
African Sub 3624 A=0.9067 G=0.0933
African Others Sub 122 A=0.885 G=0.115
African American Sub 3502 A=0.9075 G=0.0925
Asian Sub 424 A=0.802 G=0.198
East Asian Sub 362 A=0.801 G=0.199
Other Asian Sub 62 A=0.81 G=0.19
Latin American 1 Sub 260 A=0.873 G=0.127
Latin American 2 Sub 4858 A=0.6245 G=0.3755
South Asian Sub 132 A=0.947 G=0.053
Other Sub 3566 A=0.9198 G=0.0802


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 A=0.887370 G=0.112630
gnomAD - Genomes Global Study-wide 140124 A=0.901744 G=0.098256
gnomAD - Genomes European Sub 75882 A=0.92876 G=0.07124
gnomAD - Genomes African Sub 41986 A=0.90363 G=0.09637
gnomAD - Genomes American Sub 13652 A=0.75139 G=0.24861
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9672 G=0.0328
gnomAD - Genomes East Asian Sub 3130 A=0.8150 G=0.1850
gnomAD - Genomes Other Sub 2150 A=0.8912 G=0.1088
Allele Frequency Aggregator Total Global 90788 A=0.91868 G=0.08132
Allele Frequency Aggregator European Sub 77924 A=0.93826 G=0.06174
Allele Frequency Aggregator Latin American 2 Sub 4858 A=0.6245 G=0.3755
Allele Frequency Aggregator African Sub 3624 A=0.9067 G=0.0933
Allele Frequency Aggregator Other Sub 3566 A=0.9198 G=0.0802
Allele Frequency Aggregator Asian Sub 424 A=0.802 G=0.198
Allele Frequency Aggregator Latin American 1 Sub 260 A=0.873 G=0.127
Allele Frequency Aggregator South Asian Sub 132 A=0.947 G=0.053
14KJPN JAPANESE Study-wide 28258 A=0.85947 G=0.14053
8.3KJPN JAPANESE Study-wide 16760 A=0.85805 G=0.14195
1000Genomes_30x Global Study-wide 6404 A=0.8643 G=0.1357
1000Genomes_30x African Sub 1786 A=0.9138 G=0.0862
1000Genomes_30x Europe Sub 1266 A=0.9455 G=0.0545
1000Genomes_30x South Asian Sub 1202 A=0.9135 G=0.0865
1000Genomes_30x East Asian Sub 1170 A=0.8274 G=0.1726
1000Genomes_30x American Sub 980 A=0.653 G=0.347
1000Genomes Global Study-wide 5008 A=0.8710 G=0.1290
1000Genomes African Sub 1322 A=0.9115 G=0.0885
1000Genomes East Asian Sub 1008 A=0.8393 G=0.1607
1000Genomes Europe Sub 1006 A=0.9423 G=0.0577
1000Genomes South Asian Sub 978 A=0.918 G=0.082
1000Genomes American Sub 694 A=0.670 G=0.330
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9174 G=0.0826
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9284 G=0.0716
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9369 G=0.0631
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8328 G=0.1672
Korean Genome Project KOREAN Study-wide 1832 A=0.8532 G=0.1468
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.944 G=0.056
Northern Sweden ACPOP Study-wide 600 A=0.920 G=0.080
HapMap Global Study-wide 326 A=0.917 G=0.083
HapMap African Sub 120 A=0.925 G=0.075
HapMap American Sub 120 A=0.942 G=0.058
HapMap Asian Sub 86 A=0.87 G=0.13
Qatari Global Study-wide 216 A=0.963 G=0.037
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.926 G=0.074
SGDP_PRJ Global Study-wide 108 A=0.361 G=0.639
The Danish reference pan genome Danish Study-wide 40 A=0.78 G=0.23
Siberian Global Study-wide 18 A=0.50 G=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 1 NC_000001.11:g.41416250A>G
GRCh37.p13 chr 1 NC_000001.10:g.41881922A>G
GRCh38.p14 chr 1 fix patch HG986_PATCH NW_009646194.1:g.166140A>G
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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.41416250= NC_000001.11:g.41416250A>G
GRCh37.p13 chr 1 NC_000001.10:g.41881922= NC_000001.10:g.41881922A>G
GRCh38.p14 chr 1 fix patch HG986_PATCH NW_009646194.1:g.166140= NW_009646194.1:g.166140A>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#.

74 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss14881948 Dec 05, 2003 (119)
2 PERLEGEN ss23148290 Sep 20, 2004 (123)
3 AFFY ss65979427 Nov 29, 2006 (127)
4 HGSV ss84075161 Dec 15, 2007 (130)
5 BGI ss102736595 Dec 01, 2009 (131)
6 1000GENOMES ss110340508 Jan 24, 2009 (130)
7 ILLUMINA ss159901079 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss163308110 Jul 04, 2010 (132)
9 COMPLETE_GENOMICS ss164158990 Jul 04, 2010 (132)
10 1000GENOMES ss218342439 Jul 14, 2010 (132)
11 1000GENOMES ss230504614 Jul 14, 2010 (132)
12 1000GENOMES ss238204806 Jul 15, 2010 (132)
13 BL ss253050697 May 09, 2011 (134)
14 GMI ss275796439 May 04, 2012 (137)
15 ILLUMINA ss479288426 May 04, 2012 (137)
16 ILLUMINA ss479291473 May 04, 2012 (137)
17 ILLUMINA ss479670294 Sep 08, 2015 (146)
18 ILLUMINA ss484444694 May 04, 2012 (137)
19 TISHKOFF ss554016480 Apr 25, 2013 (138)
20 SSMP ss647811693 Apr 25, 2013 (138)
21 ILLUMINA ss782668854 Aug 21, 2014 (142)
22 ILLUMINA ss831919489 Apr 01, 2015 (144)
23 EVA-GONL ss975072274 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1067821654 Aug 21, 2014 (142)
25 1000GENOMES ss1290532232 Aug 21, 2014 (142)
26 EVA_GENOME_DK ss1574010089 Apr 01, 2015 (144)
27 EVA_DECODE ss1584434639 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1599986851 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1642980884 Apr 01, 2015 (144)
30 ILLUMINA ss1751919809 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1918280772 Feb 12, 2016 (147)
32 GENOMED ss1966728550 Jul 19, 2016 (147)
33 JJLAB ss2019654917 Sep 14, 2016 (149)
34 USC_VALOUEV ss2147666265 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2161755143 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2624342944 Nov 08, 2017 (151)
37 ILLUMINA ss2632505304 Nov 08, 2017 (151)
38 GRF ss2697575255 Nov 08, 2017 (151)
39 GNOMAD ss2754108729 Nov 08, 2017 (151)
40 SWEGEN ss2986670637 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3023590524 Nov 08, 2017 (151)
42 CSHL ss3343418280 Nov 08, 2017 (151)
43 ILLUMINA ss3633582938 Oct 11, 2018 (152)
44 ILLUMINA ss3634319775 Oct 11, 2018 (152)
45 ILLUMINA ss3635276871 Oct 11, 2018 (152)
46 ILLUMINA ss3635995331 Oct 11, 2018 (152)
47 ILLUMINA ss3637027277 Oct 11, 2018 (152)
48 ILLUMINA ss3640027136 Oct 11, 2018 (152)
49 EGCUT_WGS ss3654735993 Jul 12, 2019 (153)
50 EVA_DECODE ss3686596514 Jul 12, 2019 (153)
51 ACPOP ss3726972571 Jul 12, 2019 (153)
52 ILLUMINA ss3744620712 Jul 12, 2019 (153)
53 EVA ss3746092587 Jul 12, 2019 (153)
54 ILLUMINA ss3772122191 Jul 12, 2019 (153)
55 KHV_HUMAN_GENOMES ss3799106870 Jul 12, 2019 (153)
56 EVA ss3826130464 Apr 25, 2020 (154)
57 SGDP_PRJ ss3848663918 Apr 25, 2020 (154)
58 KRGDB ss3893636269 Apr 25, 2020 (154)
59 KOGIC ss3944317761 Apr 25, 2020 (154)
60 EVA ss4016905344 Apr 25, 2021 (155)
61 TOPMED ss4446495578 Apr 25, 2021 (155)
62 TOMMO_GENOMICS ss5143526112 Apr 25, 2021 (155)
63 1000G_HIGH_COVERAGE ss5241954826 Oct 17, 2022 (156)
64 EVA ss5318147214 Oct 17, 2022 (156)
65 HUGCELL_USP ss5443053856 Oct 17, 2022 (156)
66 1000G_HIGH_COVERAGE ss5514073326 Oct 17, 2022 (156)
67 SANFORD_IMAGENETICS ss5625355094 Oct 17, 2022 (156)
68 TOMMO_GENOMICS ss5668163279 Oct 17, 2022 (156)
69 EVA ss5799481599 Oct 17, 2022 (156)
70 YY_MCH ss5800518714 Oct 17, 2022 (156)
71 EVA ss5831839718 Oct 17, 2022 (156)
72 EVA ss5848872262 Oct 17, 2022 (156)
73 EVA ss5907897539 Oct 17, 2022 (156)
74 EVA ss5937177886 Oct 17, 2022 (156)
75 1000Genomes NC_000001.10 - 41881922 Oct 11, 2018 (152)
76 1000Genomes_30x NC_000001.11 - 41416250 Oct 17, 2022 (156)
77 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 41881922 Oct 11, 2018 (152)
78 Genetic variation in the Estonian population NC_000001.10 - 41881922 Oct 11, 2018 (152)
79 The Danish reference pan genome NC_000001.10 - 41881922 Apr 25, 2020 (154)
80 gnomAD - Genomes NC_000001.11 - 41416250 Apr 25, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000001.10 - 41881922 Apr 25, 2020 (154)
82 HapMap NC_000001.11 - 41416250 Apr 25, 2020 (154)
83 KOREAN population from KRGDB NC_000001.10 - 41881922 Apr 25, 2020 (154)
84 Korean Genome Project NC_000001.11 - 41416250 Apr 25, 2020 (154)
85 Northern Sweden NC_000001.10 - 41881922 Jul 12, 2019 (153)
86 Qatari NC_000001.10 - 41881922 Apr 25, 2020 (154)
87 SGDP_PRJ NC_000001.10 - 41881922 Apr 25, 2020 (154)
88 Siberian NC_000001.10 - 41881922 Apr 25, 2020 (154)
89 8.3KJPN NC_000001.10 - 41881922 Apr 25, 2021 (155)
90 14KJPN NC_000001.11 - 41416250 Oct 17, 2022 (156)
91 TopMed NC_000001.11 - 41416250 Apr 25, 2021 (155)
92 UK 10K study - Twins NC_000001.10 - 41881922 Oct 11, 2018 (152)
93 A Vietnamese Genetic Variation Database NC_000001.10 - 41881922 Jul 12, 2019 (153)
94 ALFA NC_000001.11 - 41416250 Apr 25, 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)
rs60778476 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84075161 NC_000001.8:41551014:A:G NC_000001.11:41416249:A:G (self)
ss110340508, ss159901079, ss163308110, ss164158990, ss253050697, ss275796439, ss479288426, ss1584434639 NC_000001.9:41654508:A:G NC_000001.11:41416249:A:G (self)
1237928, 670607, 474241, 1470211, 286736, 813663, 257436, 322702, 680898, 182619, 1495419, 670607, 138057, ss218342439, ss230504614, ss238204806, ss479291473, ss479670294, ss484444694, ss554016480, ss647811693, ss782668854, ss831919489, ss975072274, ss1067821654, ss1290532232, ss1574010089, ss1599986851, ss1642980884, ss1751919809, ss1918280772, ss1966728550, ss2019654917, ss2147666265, ss2624342944, ss2632505304, ss2697575255, ss2754108729, ss2986670637, ss3343418280, ss3633582938, ss3634319775, ss3635276871, ss3635995331, ss3637027277, ss3640027136, ss3654735993, ss3726972571, ss3744620712, ss3746092587, ss3772122191, ss3826130464, ss3848663918, ss3893636269, ss4016905344, ss5143526112, ss5318147214, ss5625355094, ss5799481599, ss5831839718, ss5937177886 NC_000001.10:41881921:A:G NC_000001.11:41416249:A:G (self)
1599261, 8723293, 51957, 695762, 2000383, 10101913, 5525045803, ss2161755143, ss3023590524, ss3686596514, ss3799106870, ss3944317761, ss4446495578, ss5241954826, ss5443053856, ss5514073326, ss5668163279, ss5800518714, ss5848872262, ss5907897539 NC_000001.11:41416249:A:G NC_000001.11:41416249:A:G (self)
ss14881948, ss23148290, ss65979427, ss102736595 NT_032977.9:11853839:A:G NC_000001.11:41416249:A:G (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 rs10493095

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