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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.

rs115145632

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:62655572 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.012388 (3279/264690, TOPMED)
T=0.002653 (667/251454, GnomAD_exome)
T=0.001182 (249/210686, ALFA) (+ 14 more)
T=0.011909 (1670/140230, GnomAD)
T=0.003330 (404/121304, ExAC)
T=0.01832 (1442/78694, PAGE_STUDY)
T=0.00004 (1/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN)
T=0.01353 (176/13006, GO-ESP)
T=0.0100 (64/6404, 1000G_30x)
T=0.0096 (48/5008, 1000G)
T=0.0000 (0/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
T=0.002 (1/534, MGP)
T=0.014 (3/216, Qatari)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC124902436 : Missense Variant
LOC105378327 : 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 227090 C=0.998106 T=0.001894
European Sub 190574 C=0.999900 T=0.000100
African Sub 10028 C=0.96360 T=0.03640
African Others Sub 370 C=0.954 T=0.046
African American Sub 9658 C=0.9640 T=0.0360
Asian Sub 6366 C=1.0000 T=0.0000
East Asian Sub 4516 C=1.0000 T=0.0000
Other Asian Sub 1850 C=1.0000 T=0.0000
Latin American 1 Sub 818 C=0.989 T=0.011
Latin American 2 Sub 1058 C=0.9981 T=0.0019
South Asian Sub 296 C=1.000 T=0.000
Other Sub 17950 C=0.99805 T=0.00195


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 C=0.987612 T=0.012388
gnomAD - Exomes Global Study-wide 251454 C=0.997347 T=0.002653
gnomAD - Exomes European Sub 135386 C=0.999963 T=0.000037
gnomAD - Exomes Asian Sub 49008 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34590 C=0.99876 T=0.00124
gnomAD - Exomes African Sub 16256 C=0.96235 T=0.03765
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 C=0.9992 T=0.0008
Allele Frequency Aggregator Total Global 210686 C=0.998818 T=0.001182
Allele Frequency Aggregator European Sub 180442 C=0.999906 T=0.000094
Allele Frequency Aggregator Other Sub 16516 C=0.99843 T=0.00157
Allele Frequency Aggregator Asian Sub 6366 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 5190 C=0.9624 T=0.0376
Allele Frequency Aggregator Latin American 2 Sub 1058 C=0.9981 T=0.0019
Allele Frequency Aggregator Latin American 1 Sub 818 C=0.989 T=0.011
Allele Frequency Aggregator South Asian Sub 296 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 140230 C=0.988091 T=0.011909
gnomAD - Genomes European Sub 75934 C=0.99991 T=0.00009
gnomAD - Genomes African Sub 42028 C=0.96188 T=0.03812
gnomAD - Genomes American Sub 13662 C=0.99685 T=0.00315
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=0.9916 T=0.0084
ExAC Global Study-wide 121304 C=0.996670 T=0.003330
ExAC Europe Sub 73308 C=0.99997 T=0.00003
ExAC Asian Sub 25144 C=0.99992 T=0.00008
ExAC American Sub 11570 C=0.99870 T=0.00130
ExAC African Sub 10376 C=0.96299 T=0.03701
ExAC Other Sub 906 C=0.999 T=0.001
The PAGE Study Global Study-wide 78694 C=0.98168 T=0.01832
The PAGE Study AfricanAmerican Sub 32516 C=0.96273 T=0.03727
The PAGE Study Mexican Sub 10806 C=0.99815 T=0.00185
The PAGE Study Asian Sub 8316 C=0.9999 T=0.0001
The PAGE Study PuertoRican Sub 7918 C=0.9900 T=0.0100
The PAGE Study NativeHawaiian Sub 4534 C=0.9996 T=0.0004
The PAGE Study Cuban Sub 4228 C=0.9936 T=0.0064
The PAGE Study Dominican Sub 3828 C=0.9807 T=0.0193
The PAGE Study CentralAmerican Sub 2450 C=0.9959 T=0.0041
The PAGE Study SouthAmerican Sub 1982 C=0.9950 T=0.0050
The PAGE Study NativeAmerican Sub 1260 C=0.9952 T=0.0048
The PAGE Study SouthAsian Sub 856 C=0.999 T=0.001
14KJPN JAPANESE Study-wide 28258 C=0.99996 T=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 T=0.00006
GO Exome Sequencing Project Global Study-wide 13006 C=0.98647 T=0.01353
GO Exome Sequencing Project European American Sub 8600 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 C=0.9601 T=0.0399
1000Genomes_30x Global Study-wide 6404 C=0.9900 T=0.0100
1000Genomes_30x African Sub 1786 C=0.9658 T=0.0342
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.997 T=0.003
1000Genomes Global Study-wide 5008 C=0.9904 T=0.0096
1000Genomes African Sub 1322 C=0.9652 T=0.0348
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.997 T=0.003
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=1.0000 T=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 T=0.0003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 T=0.002
Qatari Global Study-wide 216 C=0.986 T=0.014
SGDP_PRJ Global Study-wide 2 C=0.5 T=0.5
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.62655572C>T
GRCh37.p13 chr 10 NC_000010.10:g.64415332C>T
Gene: LOC124902436, uncharacterized LOC124902436 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124902436 transcript variant X1 XM_047426118.1:c.397+91C>T N/A Intron Variant
LOC124902436 transcript variant X2 XM_047426119.1:c.397+91C>T N/A Intron Variant
LOC124902436 transcript variant X3 XM_047426120.1:c.241+91C>T N/A Intron Variant
LOC124902436 transcript variant X4 XM_047426121.1:c.488C>T S [TCG] > L [TTG] Coding Sequence Variant
talanin isoform X4 XP_047282077.1:p.Ser163Leu S (Ser) > L (Leu) Missense Variant
Gene: LOC105378327, uncharacterized LOC105378327 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105378327 transcript XR_946002.3:n.14G>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 C= T
GRCh38.p14 chr 10 NC_000010.11:g.62655572= NC_000010.11:g.62655572C>T
GRCh37.p13 chr 10 NC_000010.10:g.64415332= NC_000010.10:g.64415332C>T
ZNF365 transcript variant D NM_199452.3:c.332= NM_199452.3:c.332C>T
LOC105378327 transcript XR_946002.3:n.14= XR_946002.3:n.14G>A
LOC124902436 transcript variant X4 XM_047426121.1:c.488= XM_047426121.1:c.488C>T
talanin isoform X4 XP_047282077.1:p.Ser163= XP_047282077.1:p.Ser163Leu
ZNF365 transcript variant C NM_199451.2:c.1130-824= NM_199451.2:c.1130-824C>T
protein ZNF365 isoform D NP_955524.3:p.Ser111= NP_955524.3:p.Ser111Leu
LOC124902436 transcript variant X1 XM_047426118.1:c.397+91= XM_047426118.1:c.397+91C>T
LOC124902436 transcript variant X2 XM_047426119.1:c.397+91= XM_047426119.1:c.397+91C>T
LOC124902436 transcript variant X3 XM_047426120.1:c.241+91= XM_047426120.1:c.241+91C>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#.

59 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss224765388 Jul 14, 2010 (132)
2 NHLBI-ESP ss342298839 May 09, 2011 (134)
3 ILLUMINA ss482411771 May 04, 2012 (137)
4 ILLUMINA ss482628167 May 04, 2012 (137)
5 1000GENOMES ss490997233 May 04, 2012 (137)
6 EXOME_CHIP ss491435801 May 04, 2012 (137)
7 ILLUMINA ss534637803 Sep 08, 2015 (146)
8 TISHKOFF ss562000894 Apr 25, 2013 (138)
9 ILLUMINA ss779123023 Sep 08, 2015 (146)
10 ILLUMINA ss780886715 Sep 08, 2015 (146)
11 ILLUMINA ss781752680 Sep 08, 2015 (146)
12 ILLUMINA ss783572842 Sep 08, 2015 (146)
13 ILLUMINA ss834587402 Sep 08, 2015 (146)
14 1000GENOMES ss1337721059 Aug 21, 2014 (142)
15 EVA_UK10K_ALSPAC ss1624716644 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1667710677 Apr 01, 2015 (144)
17 EVA_EXAC ss1689918073 Apr 01, 2015 (144)
18 EVA_MGP ss1711258538 Apr 01, 2015 (144)
19 ILLUMINA ss1751975586 Sep 08, 2015 (146)
20 ILLUMINA ss1917847352 Feb 12, 2016 (147)
21 WEILL_CORNELL_DGM ss1930927224 Feb 12, 2016 (147)
22 ILLUMINA ss1946283845 Feb 12, 2016 (147)
23 ILLUMINA ss1959267836 Feb 12, 2016 (147)
24 HUMAN_LONGEVITY ss2175329908 Dec 20, 2016 (150)
25 ILLUMINA ss2632719512 Nov 08, 2017 (151)
26 GNOMAD ss2738273207 Nov 08, 2017 (151)
27 GNOMAD ss2748397231 Nov 08, 2017 (151)
28 GNOMAD ss2889578372 Nov 08, 2017 (151)
29 AFFY ss2984913587 Nov 08, 2017 (151)
30 ILLUMINA ss3021245649 Nov 08, 2017 (151)
31 ILLUMINA ss3626460926 Oct 12, 2018 (152)
32 ILLUMINA ss3626460927 Oct 12, 2018 (152)
33 ILLUMINA ss3630744844 Oct 12, 2018 (152)
34 ILLUMINA ss3634406572 Oct 12, 2018 (152)
35 ILLUMINA ss3640113914 Oct 12, 2018 (152)
36 ILLUMINA ss3644536531 Oct 12, 2018 (152)
37 ILLUMINA ss3651601109 Oct 12, 2018 (152)
38 ILLUMINA ss3653684200 Oct 12, 2018 (152)
39 ILLUMINA ss3725162237 Jul 13, 2019 (153)
40 ILLUMINA ss3744367279 Jul 13, 2019 (153)
41 ILLUMINA ss3744707439 Jul 13, 2019 (153)
42 PAGE_CC ss3771561749 Jul 13, 2019 (153)
43 ILLUMINA ss3772208010 Jul 13, 2019 (153)
44 KHV_HUMAN_GENOMES ss3813562734 Jul 13, 2019 (153)
45 EVA ss3824521269 Apr 26, 2020 (154)
46 EVA ss3825776307 Apr 26, 2020 (154)
47 SGDP_PRJ ss3874355804 Apr 26, 2020 (154)
48 EVA ss3986485380 Apr 26, 2021 (155)
49 TOPMED ss4854873288 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5197947999 Apr 26, 2021 (155)
51 1000G_HIGH_COVERAGE ss5284294190 Oct 16, 2022 (156)
52 EVA ss5393907242 Oct 16, 2022 (156)
53 HUGCELL_USP ss5479847270 Oct 16, 2022 (156)
54 1000G_HIGH_COVERAGE ss5578368611 Oct 16, 2022 (156)
55 SANFORD_IMAGENETICS ss5649428180 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5743868629 Oct 16, 2022 (156)
57 EVA ss5847597631 Oct 16, 2022 (156)
58 EVA ss5879185709 Oct 16, 2022 (156)
59 EVA ss5940701161 Oct 16, 2022 (156)
60 1000Genomes NC_000010.10 - 64415332 Oct 12, 2018 (152)
61 1000Genomes_30x NC_000010.11 - 62655572 Oct 16, 2022 (156)
62 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 64415332 Oct 12, 2018 (152)
63 ExAC NC_000010.10 - 64415332 Oct 12, 2018 (152)
64 gnomAD - Genomes NC_000010.11 - 62655572 Apr 26, 2021 (155)
65 gnomAD - Exomes NC_000010.10 - 64415332 Jul 13, 2019 (153)
66 GO Exome Sequencing Project NC_000010.10 - 64415332 Oct 12, 2018 (152)
67 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 64415332 Apr 26, 2020 (154)
68 The PAGE Study NC_000010.11 - 62655572 Jul 13, 2019 (153)
69 Qatari NC_000010.10 - 64415332 Apr 26, 2020 (154)
70 SGDP_PRJ NC_000010.10 - 64415332 Apr 26, 2020 (154)
71 8.3KJPN NC_000010.10 - 64415332 Apr 26, 2021 (155)
72 14KJPN NC_000010.11 - 62655572 Oct 16, 2022 (156)
73 TopMed NC_000010.11 - 62655572 Apr 26, 2021 (155)
74 UK 10K study - Twins NC_000010.10 - 64415332 Oct 12, 2018 (152)
75 ALFA NC_000010.11 - 62655572 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)
rs386453923 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss482628167 NC_000010.9:64085337:C:T NC_000010.11:62655571:C:T (self)
50119114, 27818424, 140340, 7470434, 978977, 374298, 12969154, 26372784, 55917306, 27818424, ss224765388, ss342298839, ss482411771, ss490997233, ss491435801, ss534637803, ss562000894, ss779123023, ss780886715, ss781752680, ss783572842, ss834587402, ss1337721059, ss1624716644, ss1667710677, ss1689918073, ss1711258538, ss1751975586, ss1917847352, ss1930927224, ss1946283845, ss1959267836, ss2632719512, ss2738273207, ss2748397231, ss2889578372, ss2984913587, ss3021245649, ss3626460926, ss3626460927, ss3630744844, ss3634406572, ss3640113914, ss3644536531, ss3651601109, ss3653684200, ss3744367279, ss3744707439, ss3772208010, ss3824521269, ss3825776307, ss3874355804, ss3986485380, ss5197947999, ss5393907242, ss5649428180, ss5847597631, ss5940701161 NC_000010.10:64415331:C:T NC_000010.11:62655571:C:T (self)
65894546, 354252776, 783218, 77705733, 70418943, 4577682650, ss2175329908, ss3725162237, ss3771561749, ss3813562734, ss4854873288, ss5284294190, ss5479847270, ss5578368611, ss5743868629, ss5879185709 NC_000010.11:62655571:C:T NC_000010.11:62655571:C: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 rs115145632

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