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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.

rs10906851

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:15183351 (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=0.315006 (83379/264690, TOPMED)
G=0.266111 (45068/169358, ALFA)
G=0.304963 (42715/140066, GnomAD) (+ 21 more)
G=0.36453 (10301/28258, 14KJPN)
G=0.36002 (6034/16760, 8.3KJPN)
G=0.3488 (2234/6404, 1000G_30x)
G=0.3454 (1730/5008, 1000G)
G=0.2516 (1127/4480, Estonian)
G=0.2366 (912/3854, ALSPAC)
G=0.2530 (938/3708, TWINSUK)
G=0.3727 (1092/2930, KOREAN)
G=0.3591 (678/1888, HapMap)
G=0.3826 (701/1832, Korea1K)
G=0.3342 (379/1134, Daghestan)
G=0.251 (250/998, GoNL)
G=0.193 (121/626, Chileans)
G=0.185 (111/600, NorthernSweden)
A=0.384 (116/302, SGDP_PRJ)
G=0.347 (75/216, Qatari)
G=0.255 (55/216, Vietnamese)
A=0.50 (28/56, Ancient Sardinia)
G=0.50 (28/56, Ancient Sardinia)
G=0.38 (15/40, GENOME_DK)
A=0.39 (7/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105376434 : Intron 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 169358 A=0.733889 G=0.266111
European Sub 142070 A=0.743809 G=0.256191
African Sub 9996 A=0.5598 G=0.4402
African Others Sub 338 A=0.536 G=0.464
African American Sub 9658 A=0.5607 G=0.4393
Asian Sub 686 A=0.690 G=0.310
East Asian Sub 522 A=0.684 G=0.316
Other Asian Sub 164 A=0.707 G=0.293
Latin American 1 Sub 904 A=0.695 G=0.305
Latin American 2 Sub 8504 A=0.7828 G=0.2172
South Asian Sub 196 A=0.755 G=0.245
Other Sub 7002 A=0.7305 G=0.2695


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=0.684994 G=0.315006
Allele Frequency Aggregator Total Global 169358 A=0.733889 G=0.266111
Allele Frequency Aggregator European Sub 142070 A=0.743809 G=0.256191
Allele Frequency Aggregator African Sub 9996 A=0.5598 G=0.4402
Allele Frequency Aggregator Latin American 2 Sub 8504 A=0.7828 G=0.2172
Allele Frequency Aggregator Other Sub 7002 A=0.7305 G=0.2695
Allele Frequency Aggregator Latin American 1 Sub 904 A=0.695 G=0.305
Allele Frequency Aggregator Asian Sub 686 A=0.690 G=0.310
Allele Frequency Aggregator South Asian Sub 196 A=0.755 G=0.245
gnomAD - Genomes Global Study-wide 140066 A=0.695037 G=0.304963
gnomAD - Genomes European Sub 75882 A=0.76213 G=0.23787
gnomAD - Genomes African Sub 41950 A=0.56656 G=0.43344
gnomAD - Genomes American Sub 13642 A=0.72563 G=0.27437
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.7127 G=0.2873
gnomAD - Genomes East Asian Sub 3120 A=0.6494 G=0.3506
gnomAD - Genomes Other Sub 2148 A=0.6788 G=0.3212
14KJPN JAPANESE Study-wide 28258 A=0.63547 G=0.36453
8.3KJPN JAPANESE Study-wide 16760 A=0.63998 G=0.36002
1000Genomes_30x Global Study-wide 6404 A=0.6512 G=0.3488
1000Genomes_30x African Sub 1786 A=0.5370 G=0.4630
1000Genomes_30x Europe Sub 1266 A=0.7306 G=0.2694
1000Genomes_30x South Asian Sub 1202 A=0.6156 G=0.3844
1000Genomes_30x East Asian Sub 1170 A=0.6752 G=0.3248
1000Genomes_30x American Sub 980 A=0.771 G=0.229
1000Genomes Global Study-wide 5008 A=0.6546 G=0.3454
1000Genomes African Sub 1322 A=0.5356 G=0.4644
1000Genomes East Asian Sub 1008 A=0.6726 G=0.3274
1000Genomes Europe Sub 1006 A=0.7376 G=0.2624
1000Genomes South Asian Sub 978 A=0.624 G=0.376
1000Genomes American Sub 694 A=0.778 G=0.222
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7484 G=0.2516
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7634 G=0.2366
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7470 G=0.2530
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6273 G=0.3727
HapMap Global Study-wide 1888 A=0.6409 G=0.3591
HapMap American Sub 770 A=0.674 G=0.326
HapMap African Sub 688 A=0.594 G=0.406
HapMap Asian Sub 254 A=0.618 G=0.382
HapMap Europe Sub 176 A=0.710 G=0.290
Korean Genome Project KOREAN Study-wide 1832 A=0.6174 G=0.3826
Genome-wide autozygosity in Daghestan Global Study-wide 1134 A=0.6658 G=0.3342
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.686 G=0.314
Genome-wide autozygosity in Daghestan Near_East Sub 142 A=0.627 G=0.373
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.664 G=0.336
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.759 G=0.241
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.51 G=0.49
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.61 G=0.39
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.749 G=0.251
Chileans Chilean Study-wide 626 A=0.807 G=0.193
Northern Sweden ACPOP Study-wide 600 A=0.815 G=0.185
SGDP_PRJ Global Study-wide 302 A=0.384 G=0.616
Qatari Global Study-wide 216 A=0.653 G=0.347
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.745 G=0.255
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 56 A=0.50 G=0.50
The Danish reference pan genome Danish Study-wide 40 A=0.62 G=0.38
Siberian Global Study-wide 18 A=0.39 G=0.61
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 10 NC_000010.11:g.15183351A>G
GRCh37.p13 chr 10 NC_000010.10:g.15225350A>G
Gene: LOC105376434, uncharacterized LOC105376434 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105376434 transcript variant X1 XR_930699.2:n. N/A Intron Variant
LOC105376434 transcript variant X2 XR_001747378.2:n. N/A Genic Downstream 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
GRCh38.p14 chr 10 NC_000010.11:g.15183351= NC_000010.11:g.15183351A>G
GRCh37.p13 chr 10 NC_000010.10:g.15225350= NC_000010.10:g.15225350A>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#.

109 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15892814 Feb 27, 2004 (120)
2 SC_SNP ss18670684 Feb 27, 2004 (120)
3 SC_SNP ss18906793 Feb 27, 2004 (120)
4 ABI ss38595574 Mar 14, 2006 (126)
5 AFFY ss66036211 Jul 04, 2010 (132)
6 PERLEGEN ss69071991 May 17, 2007 (127)
7 ILLUMINA ss75289602 Dec 07, 2007 (129)
8 AFFY ss75924943 Dec 07, 2007 (129)
9 HGSV ss78741519 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss82799167 Dec 16, 2007 (130)
11 BGI ss106659158 Feb 06, 2009 (130)
12 1000GENOMES ss109262361 Jan 23, 2009 (130)
13 1000GENOMES ss115405140 Jan 25, 2009 (130)
14 ILLUMINA-UK ss119051210 Feb 15, 2009 (130)
15 ILLUMINA ss123343834 Dec 01, 2009 (131)
16 ILLUMINA ss152870928 Dec 01, 2009 (131)
17 GMI ss154636056 Dec 01, 2009 (131)
18 ILLUMINA ss159936998 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss169190328 Jul 04, 2010 (132)
20 AFFY ss169199847 Jul 04, 2010 (132)
21 ILLUMINA ss169705983 Jul 04, 2010 (132)
22 ILLUMINA ss170735897 Jul 04, 2010 (132)
23 BUSHMAN ss201192363 Jul 04, 2010 (132)
24 1000GENOMES ss224586251 Jul 14, 2010 (132)
25 1000GENOMES ss235071248 Jul 15, 2010 (132)
26 1000GENOMES ss241799726 Jul 15, 2010 (132)
27 BL ss254095897 May 09, 2011 (134)
28 GMI ss280496560 May 04, 2012 (137)
29 GMI ss286137469 Apr 25, 2013 (138)
30 PJP ss290982196 May 09, 2011 (134)
31 ILLUMINA ss479399716 May 04, 2012 (137)
32 ILLUMINA ss479402942 May 04, 2012 (137)
33 ILLUMINA ss479814044 Sep 08, 2015 (146)
34 ILLUMINA ss484499831 May 04, 2012 (137)
35 ILLUMINA ss536651680 Sep 08, 2015 (146)
36 TISHKOFF ss561794882 Apr 25, 2013 (138)
37 SSMP ss656302916 Apr 25, 2013 (138)
38 ILLUMINA ss778745618 Aug 21, 2014 (142)
39 ILLUMINA ss782696457 Aug 21, 2014 (142)
40 ILLUMINA ss783664589 Aug 21, 2014 (142)
41 ILLUMINA ss825666133 Apr 01, 2015 (144)
42 ILLUMINA ss831947507 Apr 01, 2015 (144)
43 ILLUMINA ss834205243 Aug 21, 2014 (142)
44 EVA-GONL ss987232654 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1076790892 Aug 21, 2014 (142)
46 1000GENOMES ss1336414921 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397574605 Sep 08, 2015 (146)
48 DDI ss1426234244 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1574944182 Apr 01, 2015 (144)
50 EVA_DECODE ss1596886466 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1624064001 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1667058034 Apr 01, 2015 (144)
53 EVA_SVP ss1713160916 Apr 01, 2015 (144)
54 ILLUMINA ss1751958802 Sep 08, 2015 (146)
55 HAMMER_LAB ss1806273715 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1930558878 Feb 12, 2016 (147)
57 GENOMED ss1967069296 Jul 19, 2016 (147)
58 JJLAB ss2026005613 Sep 14, 2016 (149)
59 ILLUMINA ss2095006543 Dec 20, 2016 (150)
60 USC_VALOUEV ss2154250220 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2172934721 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2627473436 Nov 08, 2017 (151)
63 ILLUMINA ss2632681238 Nov 08, 2017 (151)
64 GRF ss2698477629 Nov 08, 2017 (151)
65 GNOMAD ss2885888193 Nov 08, 2017 (151)
66 SWEGEN ss3005995943 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3026788594 Nov 08, 2017 (151)
68 CSHL ss3348980516 Nov 08, 2017 (151)
69 ILLUMINA ss3626396180 Oct 12, 2018 (152)
70 ILLUMINA ss3630708636 Oct 12, 2018 (152)
71 ILLUMINA ss3632940549 Oct 12, 2018 (152)
72 ILLUMINA ss3633637279 Oct 12, 2018 (152)
73 ILLUMINA ss3634392443 Oct 12, 2018 (152)
74 ILLUMINA ss3635330035 Oct 12, 2018 (152)
75 ILLUMINA ss3636073016 Oct 12, 2018 (152)
76 ILLUMINA ss3637080634 Oct 12, 2018 (152)
77 ILLUMINA ss3637836544 Oct 12, 2018 (152)
78 ILLUMINA ss3640099791 Oct 12, 2018 (152)
79 ILLUMINA ss3642840989 Oct 12, 2018 (152)
80 URBANLAB ss3649300095 Oct 12, 2018 (152)
81 ILLUMINA ss3651566823 Oct 12, 2018 (152)
82 EGCUT_WGS ss3673523307 Jul 13, 2019 (153)
83 EVA_DECODE ss3689353909 Jul 13, 2019 (153)
84 ACPOP ss3737095155 Jul 13, 2019 (153)
85 ILLUMINA ss3744693337 Jul 13, 2019 (153)
86 EVA ss3747792169 Jul 13, 2019 (153)
87 ILLUMINA ss3772194005 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3813152351 Jul 13, 2019 (153)
89 EVA ss3831988651 Apr 26, 2020 (154)
90 SGDP_PRJ ss3873610049 Apr 26, 2020 (154)
91 KRGDB ss3921560080 Apr 26, 2020 (154)
92 KOGIC ss3967273214 Apr 26, 2020 (154)
93 EVA ss3985460765 Apr 26, 2021 (155)
94 EVA ss4017472989 Apr 26, 2021 (155)
95 TOPMED ss4843565895 Apr 26, 2021 (155)
96 TOMMO_GENOMICS ss5196422573 Apr 26, 2021 (155)
97 1000G_HIGH_COVERAGE ss5283043945 Oct 16, 2022 (156)
98 EVA ss5315455410 Oct 16, 2022 (156)
99 EVA ss5391815978 Oct 16, 2022 (156)
100 HUGCELL_USP ss5478809367 Oct 16, 2022 (156)
101 1000G_HIGH_COVERAGE ss5576485193 Oct 16, 2022 (156)
102 SANFORD_IMAGENETICS ss5648747559 Oct 16, 2022 (156)
103 TOMMO_GENOMICS ss5741317502 Oct 16, 2022 (156)
104 EVA ss5799805220 Oct 16, 2022 (156)
105 YY_MCH ss5811229436 Oct 16, 2022 (156)
106 EVA ss5824027630 Oct 16, 2022 (156)
107 EVA ss5849454829 Oct 16, 2022 (156)
108 EVA ss5877877279 Oct 16, 2022 (156)
109 EVA ss5940035275 Oct 16, 2022 (156)
110 1000Genomes NC_000010.10 - 15225350 Oct 12, 2018 (152)
111 1000Genomes_30x NC_000010.11 - 15183351 Oct 16, 2022 (156)
112 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 15225350 Oct 12, 2018 (152)
113 Chileans NC_000010.10 - 15225350 Apr 26, 2020 (154)
114 Genome-wide autozygosity in Daghestan NC_000010.9 - 15265356 Apr 26, 2020 (154)
115 Genetic variation in the Estonian population NC_000010.10 - 15225350 Oct 12, 2018 (152)
116 The Danish reference pan genome NC_000010.10 - 15225350 Apr 26, 2020 (154)
117 gnomAD - Genomes NC_000010.11 - 15183351 Apr 26, 2021 (155)
118 Genome of the Netherlands Release 5 NC_000010.10 - 15225350 Apr 26, 2020 (154)
119 HapMap NC_000010.11 - 15183351 Apr 26, 2020 (154)
120 KOREAN population from KRGDB NC_000010.10 - 15225350 Apr 26, 2020 (154)
121 Korean Genome Project NC_000010.11 - 15183351 Apr 26, 2020 (154)
122 Northern Sweden NC_000010.10 - 15225350 Jul 13, 2019 (153)
123 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 15225350 Apr 26, 2021 (155)
124 Qatari NC_000010.10 - 15225350 Apr 26, 2020 (154)
125 SGDP_PRJ NC_000010.10 - 15225350 Apr 26, 2020 (154)
126 Siberian NC_000010.10 - 15225350 Apr 26, 2020 (154)
127 8.3KJPN NC_000010.10 - 15225350 Apr 26, 2021 (155)
128 14KJPN NC_000010.11 - 15183351 Oct 16, 2022 (156)
129 TopMed NC_000010.11 - 15183351 Apr 26, 2021 (155)
130 UK 10K study - Twins NC_000010.10 - 15225350 Oct 12, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000010.10 - 15225350 Jul 13, 2019 (153)
132 ALFA NC_000010.11 - 15183351 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)
rs61495886 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78741519 NC_000010.8:15265355:A:G NC_000010.11:15183350:A:G (self)
46182, ss75924943, ss109262361, ss115405140, ss119051210, ss159936998, ss169190328, ss169199847, ss201192363, ss254095897, ss280496560, ss286137469, ss290982196, ss479399716, ss825666133, ss1397574605, ss1596886466, ss1713160916, ss3642840989 NC_000010.9:15265355:A:G NC_000010.11:15183350:A:G (self)
48766248, 27099903, 43587, 19261555, 2047961, 12085351, 28737474, 10380020, 686692, 12600808, 25627029, 6766574, 54391880, 27099903, 6016916, ss224586251, ss235071248, ss241799726, ss479402942, ss479814044, ss484499831, ss536651680, ss561794882, ss656302916, ss778745618, ss782696457, ss783664589, ss831947507, ss834205243, ss987232654, ss1076790892, ss1336414921, ss1426234244, ss1574944182, ss1624064001, ss1667058034, ss1751958802, ss1806273715, ss1930558878, ss1967069296, ss2026005613, ss2095006543, ss2154250220, ss2627473436, ss2632681238, ss2698477629, ss2885888193, ss3005995943, ss3348980516, ss3626396180, ss3630708636, ss3632940549, ss3633637279, ss3634392443, ss3635330035, ss3636073016, ss3637080634, ss3637836544, ss3640099791, ss3651566823, ss3673523307, ss3737095155, ss3744693337, ss3747792169, ss3772194005, ss3831988651, ss3873610049, ss3921560080, ss3985460765, ss4017472989, ss5196422573, ss5315455410, ss5391815978, ss5648747559, ss5799805220, ss5824027630, ss5940035275 NC_000010.10:15225349:A:G NC_000010.11:15183350:A:G (self)
64011128, 344405001, 347411, 23651215, 75154606, 59111550, 6024112517, ss2172934721, ss3026788594, ss3649300095, ss3689353909, ss3813152351, ss3967273214, ss4843565895, ss5283043945, ss5478809367, ss5576485193, ss5741317502, ss5811229436, ss5849454829, ss5877877279 NC_000010.11:15183350:A:G NC_000010.11:15183350:A:G (self)
ss38595574, ss69071991, ss75289602, ss82799167, ss106659158, ss123343834, ss152870928, ss154636056, ss169705983, ss170735897 NT_008705.16:15165349:A:G NC_000010.11:15183350:A:G (self)
ss66036211 NT_008705.17:15173350:A:G NC_000010.11:15183350:A:G (self)
ss15892814, ss18670684, ss18906793 NT_077569.2:9588245:A:G NC_000010.11:15183350: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 rs10906851

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