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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.

rs76815522

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:62402257 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.032177 (8517/264690, TOPMED)
A=0.030835 (4317/140004, GnomAD)
A=0.00134 (38/28258, 14KJPN) (+ 9 more)
A=0.01313 (338/25748, ALFA)
A=0.00107 (18/16760, 8.3KJPN)
A=0.0339 (217/6404, 1000G_30x)
A=0.0304 (152/5008, 1000G)
A=0.0000 (0/3854, ALSPAC)
A=0.0005 (2/3708, TWINSUK)
A=0.002 (1/534, MGP)
A=0.023 (5/216, Qatari)
G=0.33 (8/24, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF365 : 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 25748 G=0.98687 A=0.01313
European Sub 20272 G=0.99951 A=0.00049
African Sub 3168 G=0.9040 A=0.0960
African Others Sub 124 G=0.879 A=0.121
African American Sub 3044 G=0.9051 A=0.0949
Asian Sub 128 G=1.000 A=0.000
East Asian Sub 100 G=1.00 A=0.00
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 168 G=0.982 A=0.018
Latin American 2 Sub 700 G=0.994 A=0.006
South Asian Sub 114 G=1.000 A=0.000
Other Sub 1198 G=0.9858 A=0.0142


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=0.967823 A=0.032177
gnomAD - Genomes Global Study-wide 140004 G=0.969165 A=0.030835
gnomAD - Genomes European Sub 75840 G=0.99968 A=0.00032
gnomAD - Genomes African Sub 41926 G=0.90269 A=0.09731
gnomAD - Genomes American Sub 13636 G=0.98885 A=0.01115
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9717 A=0.0283
14KJPN JAPANESE Study-wide 28258 G=0.99866 A=0.00134
Allele Frequency Aggregator Total Global 25748 G=0.98687 A=0.01313
Allele Frequency Aggregator European Sub 20272 G=0.99951 A=0.00049
Allele Frequency Aggregator African Sub 3168 G=0.9040 A=0.0960
Allele Frequency Aggregator Other Sub 1198 G=0.9858 A=0.0142
Allele Frequency Aggregator Latin American 2 Sub 700 G=0.994 A=0.006
Allele Frequency Aggregator Latin American 1 Sub 168 G=0.982 A=0.018
Allele Frequency Aggregator Asian Sub 128 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 114 G=1.000 A=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.99893 A=0.00107
1000Genomes_30x Global Study-wide 6404 G=0.9661 A=0.0339
1000Genomes_30x African Sub 1786 G=0.8819 A=0.1181
1000Genomes_30x Europe Sub 1266 G=0.9992 A=0.0008
1000Genomes_30x South Asian Sub 1202 G=0.9992 A=0.0008
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.996 A=0.004
1000Genomes Global Study-wide 5008 G=0.9696 A=0.0304
1000Genomes African Sub 1322 G=0.8888 A=0.1112
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=0.999 A=0.001
1000Genomes American Sub 694 G=0.996 A=0.004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.0000 A=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9995 A=0.0005
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 A=0.002
Qatari Global Study-wide 216 G=0.977 A=0.023
SGDP_PRJ Global Study-wide 24 G=0.33 A=0.67
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.62402257G>A
GRCh37.p13 chr 10 NC_000010.10:g.64162016G>A
ZNF365 RefSeqGene NG_021209.2:g.33066G>A
Gene: ZNF365, zinc finger protein 365 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF365 transcript variant B NM_199450.3:c.924+13681G>A N/A Intron Variant
ZNF365 transcript variant A NM_014951.3:c.*2468= N/A 3 Prime UTR 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 G= A
GRCh38.p14 chr 10 NC_000010.11:g.62402257= NC_000010.11:g.62402257G>A
GRCh37.p13 chr 10 NC_000010.10:g.64162016= NC_000010.10:g.64162016G>A
ZNF365 RefSeqGene NG_021209.2:g.33066= NG_021209.2:g.33066G>A
ZNF365 transcript variant A NM_014951.3:c.*2468= NM_014951.3:c.*2468G>A
ZNF365 transcript variant A NM_014951.2:c.*2468= NM_014951.2:c.*2468G>A
ZNF365 transcript variant B NM_199450.2:c.924+13681= NM_199450.2:c.924+13681G>A
ZNF365 transcript variant B NM_199450.3:c.924+13681= NM_199450.3:c.924+13681G>A
ZNF365 transcript variant C NM_199451.2:c.924+13681= NM_199451.2:c.924+13681G>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#.

36 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 BUSHMAN ss201606955 Jul 04, 2010 (132)
2 1000GENOMES ss224764356 Jul 14, 2010 (132)
3 ILLUMINA ss482376402 May 04, 2012 (137)
4 ILLUMINA ss482627534 May 04, 2012 (137)
5 ILLUMINA ss534622134 Sep 08, 2015 (146)
6 TISHKOFF ss561999738 Apr 25, 2013 (138)
7 ILLUMINA ss779362491 Sep 08, 2015 (146)
8 ILLUMINA ss781740930 Sep 08, 2015 (146)
9 ILLUMINA ss834830706 Sep 08, 2015 (146)
10 JMKIDD_LAB ss1077041464 Aug 21, 2014 (142)
11 1000GENOMES ss1337713834 Aug 21, 2014 (142)
12 EVA_DECODE ss1597229735 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1624712604 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1667706637 Apr 01, 2015 (144)
15 EVA_MGP ss1711258526 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1930925208 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2175315111 Dec 20, 2016 (150)
18 ILLUMINA ss2632719240 Nov 08, 2017 (151)
19 GNOMAD ss2889558245 Nov 08, 2017 (151)
20 SWEGEN ss3006591190 Nov 08, 2017 (151)
21 ILLUMINA ss3626460469 Oct 12, 2018 (152)
22 ILLUMINA ss3630744585 Oct 12, 2018 (152)
23 EVA_DECODE ss3690014869 Jul 13, 2019 (153)
24 KHV_HUMAN_GENOMES ss3813560673 Jul 13, 2019 (153)
25 SGDP_PRJ ss3874352201 Apr 26, 2020 (154)
26 TOPMED ss4854810903 Apr 26, 2021 (155)
27 TOMMO_GENOMICS ss5197940191 Apr 26, 2021 (155)
28 1000G_HIGH_COVERAGE ss5284288080 Oct 16, 2022 (156)
29 EVA ss5393896051 Oct 16, 2022 (156)
30 HUGCELL_USP ss5479841790 Oct 16, 2022 (156)
31 EVA ss5510044160 Oct 16, 2022 (156)
32 1000G_HIGH_COVERAGE ss5578359212 Oct 16, 2022 (156)
33 SANFORD_IMAGENETICS ss5649424602 Oct 16, 2022 (156)
34 TOMMO_GENOMICS ss5743858718 Oct 16, 2022 (156)
35 EVA ss5879178472 Oct 16, 2022 (156)
36 EVA ss5940697349 Oct 16, 2022 (156)
37 1000Genomes NC_000010.10 - 64162016 Oct 12, 2018 (152)
38 1000Genomes_30x NC_000010.11 - 62402257 Oct 16, 2022 (156)
39 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 64162016 Oct 12, 2018 (152)
40 gnomAD - Genomes NC_000010.11 - 62402257 Apr 26, 2021 (155)
41 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 64162016 Apr 26, 2020 (154)
42 Qatari NC_000010.10 - 64162016 Apr 26, 2020 (154)
43 SGDP_PRJ NC_000010.10 - 64162016 Apr 26, 2020 (154)
44 8.3KJPN NC_000010.10 - 64162016 Apr 26, 2021 (155)
45 14KJPN NC_000010.11 - 62402257 Oct 16, 2022 (156)
46 TopMed NC_000010.11 - 62402257 Apr 26, 2021 (155)
47 UK 10K study - Twins NC_000010.10 - 64162016 Oct 12, 2018 (152)
48 ALFA NC_000010.11 - 62402257 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss201606955, ss482627534, ss1597229735 NC_000010.9:63832021:G:A NC_000010.11:62402256:G:A (self)
50111632, 27814070, 374286, 12967138, 26369181, 55909498, 27814070, ss224764356, ss482376402, ss534622134, ss561999738, ss779362491, ss781740930, ss834830706, ss1077041464, ss1337713834, ss1624712604, ss1667706637, ss1711258526, ss1930925208, ss2632719240, ss2889558245, ss3006591190, ss3626460469, ss3630744585, ss3874352201, ss5197940191, ss5393896051, ss5510044160, ss5649424602, ss5940697349 NC_000010.10:64162015:G:A NC_000010.11:62402256:G:A (self)
65885147, 354202461, 77695822, 70356558, 10765126090, ss2175315111, ss3690014869, ss3813560673, ss4854810903, ss5284288080, ss5479841790, ss5578359212, ss5743858718, ss5879178472 NC_000010.11:62402256:G:A NC_000010.11:62402256:G:A (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 rs76815522

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