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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.

rs10113655

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:37067019 (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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.021516 (5695/264690, TOPMED)
A=0.019122 (2682/140260, GnomAD)
A=0.03618 (2847/78696, PAGE_STUDY) (+ 16 more)
A=0.01406 (403/28662, ALFA)
A=0.08320 (2351/28258, 14KJPN)
A=0.08001 (1341/16760, 8.3KJPN)
A=0.0504 (323/6404, 1000G_30x)
A=0.0561 (281/5008, 1000G)
A=0.0027 (12/4480, Estonian)
A=0.0788 (231/2930, KOREAN)
A=0.0480 (100/2084, HGDP_Stanford)
A=0.013 (13/998, GoNL)
A=0.008 (5/600, NorthernSweden)
A=0.041 (23/556, SGDP_PRJ)
A=0.083 (18/216, Qatari)
A=0.105 (22/210, Vietnamese)
A=0.00 (0/46, Siberian)
A=0.00 (0/40, GENOME_DK)
A=0.00 (0/34, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105379377 : Non Coding Transcript Variant
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 28756 A=0.01405 G=0.98595
European Sub 21934 A=0.00830 G=0.99170
African Sub 4048 A=0.0368 G=0.9632
African Others Sub 126 A=0.063 G=0.937
African American Sub 3922 A=0.0360 G=0.9640
Asian Sub 192 A=0.083 G=0.917
East Asian Sub 134 A=0.104 G=0.896
Other Asian Sub 58 A=0.03 G=0.97
Latin American 1 Sub 212 A=0.014 G=0.986
Latin American 2 Sub 754 A=0.004 G=0.996
South Asian Sub 114 A=0.035 G=0.965
Other Sub 1502 A=0.0313 G=0.9687


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=0.021516 G=0.978484
gnomAD - Genomes Global Study-wide 140260 A=0.019122 G=0.980878
gnomAD - Genomes European Sub 75954 A=0.00822 G=0.99178
gnomAD - Genomes African Sub 42046 A=0.03608 G=0.96392
gnomAD - Genomes American Sub 13658 A=0.01040 G=0.98960
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.0177 G=0.9823
gnomAD - Genomes East Asian Sub 3128 A=0.0927 G=0.9073
gnomAD - Genomes Other Sub 2150 A=0.0233 G=0.9767
The PAGE Study Global Study-wide 78696 A=0.03618 G=0.96382
The PAGE Study AfricanAmerican Sub 32512 A=0.03543 G=0.96457
The PAGE Study Mexican Sub 10810 A=0.00879 G=0.99121
The PAGE Study Asian Sub 8318 A=0.0884 G=0.9116
The PAGE Study PuertoRican Sub 7918 A=0.0189 G=0.9811
The PAGE Study NativeHawaiian Sub 4532 A=0.0958 G=0.9042
The PAGE Study Cuban Sub 4230 A=0.0170 G=0.9830
The PAGE Study Dominican Sub 3828 A=0.0230 G=0.9770
The PAGE Study CentralAmerican Sub 2450 A=0.0151 G=0.9849
The PAGE Study SouthAmerican Sub 1982 A=0.0081 G=0.9919
The PAGE Study NativeAmerican Sub 1260 A=0.0119 G=0.9881
The PAGE Study SouthAsian Sub 856 A=0.062 G=0.938
Allele Frequency Aggregator Total Global 28662 A=0.01406 G=0.98594
Allele Frequency Aggregator European Sub 21858 A=0.00828 G=0.99172
Allele Frequency Aggregator African Sub 4048 A=0.0368 G=0.9632
Allele Frequency Aggregator Other Sub 1484 A=0.0317 G=0.9683
Allele Frequency Aggregator Latin American 2 Sub 754 A=0.004 G=0.996
Allele Frequency Aggregator Latin American 1 Sub 212 A=0.014 G=0.986
Allele Frequency Aggregator Asian Sub 192 A=0.083 G=0.917
Allele Frequency Aggregator South Asian Sub 114 A=0.035 G=0.965
14KJPN JAPANESE Study-wide 28258 A=0.08320 G=0.91680
8.3KJPN JAPANESE Study-wide 16760 A=0.08001 G=0.91999
1000Genomes_30x Global Study-wide 6404 A=0.0504 G=0.9496
1000Genomes_30x African Sub 1786 A=0.0521 G=0.9479
1000Genomes_30x Europe Sub 1266 A=0.0103 G=0.9897
1000Genomes_30x South Asian Sub 1202 A=0.0657 G=0.9343
1000Genomes_30x East Asian Sub 1170 A=0.1068 G=0.8932
1000Genomes_30x American Sub 980 A=0.013 G=0.987
1000Genomes Global Study-wide 5008 A=0.0561 G=0.9439
1000Genomes African Sub 1322 A=0.0560 G=0.9440
1000Genomes East Asian Sub 1008 A=0.1081 G=0.8919
1000Genomes Europe Sub 1006 A=0.0159 G=0.9841
1000Genomes South Asian Sub 978 A=0.065 G=0.935
1000Genomes American Sub 694 A=0.026 G=0.974
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.0027 G=0.9973
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0788 G=0.9212, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.0480 G=0.9520
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.081 G=0.919
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.041 G=0.959
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.026 G=0.974
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.000 G=1.000
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.066 G=0.934
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.000 G=1.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.28 G=0.72
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.013 G=0.987
Northern Sweden ACPOP Study-wide 600 A=0.008 G=0.992
SGDP_PRJ Global Study-wide 556 A=0.041 G=0.959
Qatari Global Study-wide 216 A=0.083 G=0.917
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.105 G=0.895
Siberian Global Study-wide 46 A=0.00 G=1.00
The Danish reference pan genome Danish Study-wide 40 A=0.00 G=1.00
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 34 A=0.00 G=1.00
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 8 NC_000008.11:g.37067019A>G
GRCh38.p14 chr 8 NC_000008.11:g.37067019A>T
GRCh37.p13 chr 8 NC_000008.10:g.36924537A>G
GRCh37.p13 chr 8 NC_000008.10:g.36924537A>T
Gene: LOC105379377, uncharacterized LOC105379377 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105379377 transcript XR_949675.4:n.2009T>C N/A Non Coding Transcript Variant
LOC105379377 transcript XR_949675.4:n.2009T>A N/A Non Coding Transcript 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.

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 T
GRCh38.p14 chr 8 NC_000008.11:g.37067019= NC_000008.11:g.37067019A>G NC_000008.11:g.37067019A>T
GRCh37.p13 chr 8 NC_000008.10:g.36924537= NC_000008.10:g.36924537A>G NC_000008.10:g.36924537A>T
LOC105379377 transcript XR_949675.4:n.2009= XR_949675.4:n.2009T>C XR_949675.4:n.2009T>A
LOC105379377 transcript XR_949675.3:n.2009= XR_949675.3:n.2009T>C XR_949675.3:n.2009T>A
LOC105379377 transcript XR_949675.2:n.2009= XR_949675.2:n.2009T>C XR_949675.2:n.2009T>A
LOC105379377 transcript XR_949675.1:n.1662= XR_949675.1:n.1662T>C XR_949675.1:n.1662T>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#.

92 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13971068 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss17220742 Feb 27, 2004 (120)
3 SSAHASNP ss22780899 Apr 05, 2004 (121)
4 ILLUMINA ss66870530 Nov 29, 2006 (127)
5 ILLUMINA ss66947552 Nov 29, 2006 (127)
6 ILLUMINA ss68078364 Dec 12, 2006 (127)
7 ILLUMINA ss70466006 May 25, 2008 (137)
8 AFFY ss76550421 Dec 06, 2007 (129)
9 KRIBB_YJKIM ss84907219 Dec 15, 2007 (137)
10 HGSV ss85168514 Dec 15, 2007 (137)
11 HGSV ss85940102 Dec 15, 2007 (137)
12 BCMHGSC_JDW ss93869963 Mar 25, 2008 (137)
13 HUMANGENOME_JCVI ss97866279 Feb 05, 2009 (137)
14 BGI ss105612743 Feb 13, 2009 (137)
15 ILLUMINA ss107694412 Feb 05, 2009 (137)
16 1000GENOMES ss115280186 Jan 25, 2009 (137)
17 ENSEMBL ss134418312 Dec 01, 2009 (137)
18 ENSEMBL ss143395395 Dec 01, 2009 (137)
19 GMI ss156264702 Dec 01, 2009 (137)
20 COMPLETE_GENOMICS ss162326711 Jul 04, 2010 (137)
21 COMPLETE_GENOMICS ss164437359 Jul 04, 2010 (137)
22 COMPLETE_GENOMICS ss166520132 Jul 04, 2010 (137)
23 BUSHMAN ss199042235 Jul 04, 2010 (137)
24 BCM-HGSC-SUB ss208505436 Jul 04, 2010 (137)
25 1000GENOMES ss210709748 Jul 14, 2010 (137)
26 BL ss254264293 May 09, 2011 (137)
27 GMI ss279771275 May 04, 2012 (137)
28 GMI ss285828442 Apr 25, 2013 (138)
29 PJP ss294257274 May 09, 2011 (137)
30 1000GENOMES ss460349748 Sep 17, 2011 (137)
31 TISHKOFF ss560685716 Apr 25, 2013 (138)
32 SSMP ss655119413 Apr 25, 2013 (138)
33 EVA-GONL ss985405823 Aug 21, 2014 (142)
34 1000GENOMES ss1329423225 Aug 21, 2014 (142)
35 DDI ss1431481396 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1582644990 Apr 01, 2015 (144)
37 EVA_SVP ss1713030512 Apr 01, 2015 (144)
38 HAMMER_LAB ss1805490700 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1928694904 Feb 12, 2016 (147)
40 ILLUMINA ss1959103876 Feb 12, 2016 (147)
41 GENOMED ss1970960135 Jul 19, 2016 (147)
42 JJLAB ss2025050447 Sep 14, 2016 (149)
43 USC_VALOUEV ss2153271122 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2302354832 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2627007737 Nov 08, 2017 (151)
46 GRF ss2709036245 Nov 08, 2017 (151)
47 GNOMAD ss2865524461 Nov 08, 2017 (151)
48 AFFY ss2985436493 Nov 08, 2017 (151)
49 AFFY ss2986080374 Nov 08, 2017 (151)
50 SWEGEN ss3003004044 Nov 08, 2017 (151)
51 ILLUMINA ss3022837677 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3026314886 Nov 08, 2017 (151)
53 CSHL ss3348136860 Nov 08, 2017 (151)
54 ILLUMINA ss3639380338 Oct 12, 2018 (152)
55 ILLUMINA ss3639984739 Oct 12, 2018 (152)
56 ILLUMINA ss3644028227 Oct 12, 2018 (152)
57 URBANLAB ss3648894549 Oct 12, 2018 (152)
58 ILLUMINA ss3653379192 Oct 12, 2018 (152)
59 ILLUMINA ss3654198633 Oct 12, 2018 (152)
60 EGCUT_WGS ss3670696941 Jul 13, 2019 (153)
61 EVA_DECODE ss3721809689 Jul 13, 2019 (153)
62 ILLUMINA ss3726530763 Jul 13, 2019 (153)
63 ACPOP ss3735576797 Jul 13, 2019 (153)
64 EVA ss3767873549 Jul 13, 2019 (153)
65 PAGE_CC ss3771436872 Jul 13, 2019 (153)
66 PACBIO ss3786119407 Jul 13, 2019 (153)
67 PACBIO ss3791380461 Jul 13, 2019 (153)
68 PACBIO ss3796261716 Jul 13, 2019 (153)
69 KHV_HUMAN_GENOMES ss3811035378 Jul 13, 2019 (153)
70 EVA ss3831117834 Apr 26, 2020 (154)
71 EVA ss3839068250 Apr 26, 2020 (154)
72 EVA ss3844526865 Apr 26, 2020 (154)
73 HGDP ss3847911148 Apr 26, 2020 (154)
74 SGDP_PRJ ss3869702691 Apr 26, 2020 (154)
75 KRGDB ss3917151225 Apr 26, 2020 (154)
76 EVA ss3985355216 Apr 26, 2021 (155)
77 TOPMED ss4782433203 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5188217810 Apr 26, 2021 (155)
79 1000G_HIGH_COVERAGE ss5276773325 Oct 13, 2022 (156)
80 EVA ss5380467527 Oct 13, 2022 (156)
81 HUGCELL_USP ss5473382454 Oct 13, 2022 (156)
82 1000G_HIGH_COVERAGE ss5566923605 Oct 13, 2022 (156)
83 SANFORD_IMAGENETICS ss5624691512 Oct 13, 2022 (156)
84 SANFORD_IMAGENETICS ss5645175187 Oct 13, 2022 (156)
85 TOMMO_GENOMICS ss5729998037 Oct 13, 2022 (156)
86 YY_MCH ss5809620518 Oct 13, 2022 (156)
87 EVA ss5830393506 Oct 13, 2022 (156)
88 EVA ss5847337666 Oct 13, 2022 (156)
89 EVA ss5856338272 Oct 13, 2022 (156)
90 EVA ss5974370206 Oct 13, 2022 (156)
91 EVA ss5979860562 Oct 13, 2022 (156)
92 EVA ss5980500035 Oct 13, 2022 (156)
93 1000Genomes NC_000008.10 - 36924537 Oct 12, 2018 (152)
94 1000Genomes_30x NC_000008.11 - 37067019 Oct 13, 2022 (156)
95 Genetic variation in the Estonian population NC_000008.10 - 36924537 Oct 12, 2018 (152)
96 The Danish reference pan genome NC_000008.10 - 36924537 Apr 26, 2020 (154)
97 gnomAD - Genomes NC_000008.11 - 37067019 Apr 26, 2021 (155)
98 Genome of the Netherlands Release 5 NC_000008.10 - 36924537 Apr 26, 2020 (154)
99 HGDP-CEPH-db Supplement 1 NC_000008.9 - 37043695 Apr 26, 2020 (154)
100 KOREAN population from KRGDB NC_000008.10 - 36924537 Apr 26, 2020 (154)
101 Northern Sweden NC_000008.10 - 36924537 Jul 13, 2019 (153)
102 The PAGE Study NC_000008.11 - 37067019 Jul 13, 2019 (153)
103 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 36924537 Apr 26, 2021 (155)
104 Qatari NC_000008.10 - 36924537 Apr 26, 2020 (154)
105 SGDP_PRJ NC_000008.10 - 36924537 Apr 26, 2020 (154)
106 Siberian NC_000008.10 - 36924537 Apr 26, 2020 (154)
107 8.3KJPN NC_000008.10 - 36924537 Apr 26, 2021 (155)
108 14KJPN NC_000008.11 - 37067019 Oct 13, 2022 (156)
109 TopMed NC_000008.11 - 37067019 Apr 26, 2021 (155)
110 A Vietnamese Genetic Variation Database NC_000008.10 - 36924537 Jul 13, 2019 (153)
111 ALFA NC_000008.11 - 37067019 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)
rs59461201 Jan 15, 2013 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
589040, ss76550421, ss85168514, ss85940102, ss93869963, ss115280186, ss162326711, ss164437359, ss166520132, ss199042235, ss208505436, ss210709748, ss254264293, ss279771275, ss285828442, ss294257274, ss1713030512, ss3639380338, ss3639984739, ss3644028227, ss3847911148 NC_000008.9:37043694:A:G NC_000008.11:37067018:A:G (self)
41534797, 16435189, 8809928, 10317030, 24328619, 8861662, 581143, 10736834, 21719671, 5787476, 46187117, 5146574, ss460349748, ss560685716, ss655119413, ss985405823, ss1329423225, ss1431481396, ss1582644990, ss1805490700, ss1928694904, ss1959103876, ss1970960135, ss2025050447, ss2153271122, ss2627007737, ss2709036245, ss2865524461, ss2985436493, ss2986080374, ss3003004044, ss3022837677, ss3348136860, ss3653379192, ss3654198633, ss3670696941, ss3735576797, ss3767873549, ss3786119407, ss3791380461, ss3796261716, ss3831117834, ss3839068250, ss3869702691, ss3917151225, ss3985355216, ss5188217810, ss5380467527, ss5624691512, ss5645175187, ss5830393506, ss5847337666, ss5974370206, ss5979860562, ss5980500035 NC_000008.10:36924536:A:G NC_000008.11:37067018:A:G (self)
54449540, 292859238, 658341, 63835141, 619810763, 10534167596, ss2302354832, ss3026314886, ss3648894549, ss3721809689, ss3726530763, ss3771436872, ss3811035378, ss3844526865, ss4782433203, ss5276773325, ss5473382454, ss5566923605, ss5729998037, ss5809620518, ss5856338272 NC_000008.11:37067018:A:G NC_000008.11:37067018:A:G (self)
ss13971068, ss17220742, ss22780899 NT_007995.13:7244926:A:G NC_000008.11:37067018:A:G (self)
ss66870530, ss66947552, ss68078364, ss70466006, ss84907219, ss97866279, ss105612743, ss107694412, ss134418312, ss143395395, ss156264702 NT_167187.1:24782682:A:G NC_000008.11:37067018:A:G (self)
24328619, ss3917151225 NC_000008.10:36924536:A:T NC_000008.11:37067018:A: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 rs10113655

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