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dbSNP Short Genetic Variations

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.

rs115188066

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:42520023 (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=0.001379 (365/264690, TOPMED)
G=0.001385 (194/140076, GnomAD)
G=0.00090 (13/14420, ALFA) (+ 5 more)
G=0.0022 (14/6404, 1000G_30x)
G=0.0020 (10/5008, 1000G)
G=0.005 (1/216, Qatari)
A=0.5 (4/8, SGDP_PRJ)
G=0.5 (4/8, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP6V0A1 : 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 14420 A=0.99910 G=0.00090
European Sub 9824 A=1.0000 G=0.0000
African Sub 2946 A=0.9963 G=0.0037
African Others Sub 114 A=1.000 G=0.000
African American Sub 2832 A=0.9961 G=0.0039
Asian Sub 112 A=1.000 G=0.000
East Asian Sub 86 A=1.00 G=0.00
Other Asian Sub 26 A=1.00 G=0.00
Latin American 1 Sub 146 A=1.000 G=0.000
Latin American 2 Sub 610 A=1.000 G=0.000
South Asian Sub 98 A=1.00 G=0.00
Other Sub 684 A=0.997 G=0.003


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=0.998621 G=0.001379
gnomAD - Genomes Global Study-wide 140076 A=0.998615 G=0.001385
gnomAD - Genomes European Sub 75882 A=0.99999 G=0.00001
gnomAD - Genomes African Sub 41966 A=0.99557 G=0.00443
gnomAD - Genomes American Sub 13632 A=0.99956 G=0.00044
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3126 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2148 A=0.9995 G=0.0005
Allele Frequency Aggregator Total Global 14420 A=0.99910 G=0.00090
Allele Frequency Aggregator European Sub 9824 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2946 A=0.9963 G=0.0037
Allele Frequency Aggregator Other Sub 684 A=0.997 G=0.003
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
1000Genomes_30x Global Study-wide 6404 A=0.9978 G=0.0022
1000Genomes_30x African Sub 1786 A=0.9922 G=0.0078
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=1.000 G=0.000
1000Genomes Global Study-wide 5008 A=0.9980 G=0.0020
1000Genomes African Sub 1322 A=0.9924 G=0.0076
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=1.000 G=0.000
Qatari Global Study-wide 216 A=0.995 G=0.005
SGDP_PRJ Global Study-wide 8 A=0.5 G=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 17 NC_000017.11:g.42520023A>G
GRCh37.p13 chr 17 NC_000017.10:g.40672041A>G
ATP6V0A1 RefSeqGene NG_047037.1:g.66180A>G
Gene: ATP6V0A1, ATPase H+ transporting V0 subunit a1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP6V0A1 transcript variant 2 NM_001130020.3:c.2424-100…

NM_001130020.3:c.2424-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 1 NM_001130021.3:c.2421-100…

NM_001130021.3:c.2421-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 4 NM_001378522.1:c.2442-100…

NM_001378522.1:c.2442-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 5 NM_001378523.1:c.2316-100…

NM_001378523.1:c.2316-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 6 NM_001378530.1:c.2619-100…

NM_001378530.1:c.2619-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 7 NM_001378531.1:c.2565-100…

NM_001378531.1:c.2565-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 8 NM_001378532.1:c.2547-100…

NM_001378532.1:c.2547-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 9 NM_001378533.1:c.2544-100…

NM_001378533.1:c.2544-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 10 NM_001378534.1:c.2517-100…

NM_001378534.1:c.2517-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 11 NM_001378535.1:c.2496-100…

NM_001378535.1:c.2496-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 12 NM_001378536.1:c.2313-100…

NM_001378536.1:c.2313-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 13 NM_001378537.1:c.2295-100…

NM_001378537.1:c.2295-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 14 NM_001378538.1:c.2292-100…

NM_001378538.1:c.2292-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 15 NM_001378539.1:c.2270-100…

NM_001378539.1:c.2270-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 16 NM_001378540.1:c.2274-100…

NM_001378540.1:c.2274-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 17 NM_001378541.1:c.2252-100…

NM_001378541.1:c.2252-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 18 NM_001378542.1:c.2249-100…

NM_001378542.1:c.2249-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 19 NM_001378543.1:c.2244-100…

NM_001378543.1:c.2244-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 20 NM_001378544.1:c.2231-100…

NM_001378544.1:c.2231-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 21 NM_001378545.1:c.2211-100…

NM_001378545.1:c.2211-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 22 NM_001378546.1:c.2208-100…

NM_001378546.1:c.2208-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 23 NM_001378547.1:c.2190-100…

NM_001378547.1:c.2190-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 24 NM_001378548.1:c.2175-100…

NM_001378548.1:c.2175-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 25 NM_001378549.1:c.2241-100…

NM_001378549.1:c.2241-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 26 NM_001378550.1:c.2295-100…

NM_001378550.1:c.2295-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 27 NM_001378551.1:c.2526-100…

NM_001378551.1:c.2526-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 28 NM_001378552.1:c.2354-100…

NM_001378552.1:c.2354-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 29 NM_001378554.1:c.2193-100…

NM_001378554.1:c.2193-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 30 NM_001378556.1:c.2123-100…

NM_001378556.1:c.2123-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 31 NM_001378557.1:c.2123-100…

NM_001378557.1:c.2123-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant 3 NM_005177.5:c.2403-1004A>G N/A Intron Variant
ATP6V0A1 transcript variant X7 XM_047436305.1:c.2144-100…

XM_047436305.1:c.2144-1004A>G

N/A Intron Variant
ATP6V0A1 transcript variant X1 XM_047436304.1:c. N/A Genic Downstream Transcript Variant
ATP6V0A1 transcript variant X2 XR_007065303.1:n.5097A>G N/A Non Coding Transcript Variant
ATP6V0A1 transcript variant X3 XR_007065304.1:n.5079A>G N/A Non Coding Transcript Variant
ATP6V0A1 transcript variant X4 XR_007065305.1:n.5058A>G N/A Non Coding Transcript Variant
ATP6V0A1 transcript variant X5 XR_007065306.1:n.4971A>G N/A Non Coding Transcript Variant
ATP6V0A1 transcript variant X6 XR_007065307.1:n.4950A>G 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
GRCh38.p14 chr 17 NC_000017.11:g.42520023= NC_000017.11:g.42520023A>G
GRCh37.p13 chr 17 NC_000017.10:g.40672041= NC_000017.10:g.40672041A>G
ATP6V0A1 RefSeqGene NG_047037.1:g.66180= NG_047037.1:g.66180A>G
ATP6V0A1 transcript variant X2 XR_007065303.1:n.5097= XR_007065303.1:n.5097A>G
ATP6V0A1 transcript variant X3 XR_007065304.1:n.5079= XR_007065304.1:n.5079A>G
ATP6V0A1 transcript variant X4 XR_007065305.1:n.5058= XR_007065305.1:n.5058A>G
ATP6V0A1 transcript variant X5 XR_007065306.1:n.4971= XR_007065306.1:n.4971A>G
ATP6V0A1 transcript variant X6 XR_007065307.1:n.4950= XR_007065307.1:n.4950A>G
ATP6V0A1 transcript variant 1 NM_001130020.1:c.2424-1004= NM_001130020.1:c.2424-1004A>G
ATP6V0A1 transcript variant 2 NM_001130020.3:c.2424-1004= NM_001130020.3:c.2424-1004A>G
ATP6V0A1 transcript variant 2 NM_001130021.1:c.2421-1004= NM_001130021.1:c.2421-1004A>G
ATP6V0A1 transcript variant 1 NM_001130021.3:c.2421-1004= NM_001130021.3:c.2421-1004A>G
ATP6V0A1 transcript variant 4 NM_001378522.1:c.2442-1004= NM_001378522.1:c.2442-1004A>G
ATP6V0A1 transcript variant 5 NM_001378523.1:c.2316-1004= NM_001378523.1:c.2316-1004A>G
ATP6V0A1 transcript variant 6 NM_001378530.1:c.2619-1004= NM_001378530.1:c.2619-1004A>G
ATP6V0A1 transcript variant 7 NM_001378531.1:c.2565-1004= NM_001378531.1:c.2565-1004A>G
ATP6V0A1 transcript variant 8 NM_001378532.1:c.2547-1004= NM_001378532.1:c.2547-1004A>G
ATP6V0A1 transcript variant 9 NM_001378533.1:c.2544-1004= NM_001378533.1:c.2544-1004A>G
ATP6V0A1 transcript variant 10 NM_001378534.1:c.2517-1004= NM_001378534.1:c.2517-1004A>G
ATP6V0A1 transcript variant 11 NM_001378535.1:c.2496-1004= NM_001378535.1:c.2496-1004A>G
ATP6V0A1 transcript variant 12 NM_001378536.1:c.2313-1004= NM_001378536.1:c.2313-1004A>G
ATP6V0A1 transcript variant 13 NM_001378537.1:c.2295-1004= NM_001378537.1:c.2295-1004A>G
ATP6V0A1 transcript variant 14 NM_001378538.1:c.2292-1004= NM_001378538.1:c.2292-1004A>G
ATP6V0A1 transcript variant 15 NM_001378539.1:c.2270-1004= NM_001378539.1:c.2270-1004A>G
ATP6V0A1 transcript variant 16 NM_001378540.1:c.2274-1004= NM_001378540.1:c.2274-1004A>G
ATP6V0A1 transcript variant 17 NM_001378541.1:c.2252-1004= NM_001378541.1:c.2252-1004A>G
ATP6V0A1 transcript variant 18 NM_001378542.1:c.2249-1004= NM_001378542.1:c.2249-1004A>G
ATP6V0A1 transcript variant 19 NM_001378543.1:c.2244-1004= NM_001378543.1:c.2244-1004A>G
ATP6V0A1 transcript variant 20 NM_001378544.1:c.2231-1004= NM_001378544.1:c.2231-1004A>G
ATP6V0A1 transcript variant 21 NM_001378545.1:c.2211-1004= NM_001378545.1:c.2211-1004A>G
ATP6V0A1 transcript variant 22 NM_001378546.1:c.2208-1004= NM_001378546.1:c.2208-1004A>G
ATP6V0A1 transcript variant 23 NM_001378547.1:c.2190-1004= NM_001378547.1:c.2190-1004A>G
ATP6V0A1 transcript variant 24 NM_001378548.1:c.2175-1004= NM_001378548.1:c.2175-1004A>G
ATP6V0A1 transcript variant 25 NM_001378549.1:c.2241-1004= NM_001378549.1:c.2241-1004A>G
ATP6V0A1 transcript variant 26 NM_001378550.1:c.2295-1004= NM_001378550.1:c.2295-1004A>G
ATP6V0A1 transcript variant 27 NM_001378551.1:c.2526-1004= NM_001378551.1:c.2526-1004A>G
ATP6V0A1 transcript variant 28 NM_001378552.1:c.2354-1004= NM_001378552.1:c.2354-1004A>G
ATP6V0A1 transcript variant 29 NM_001378554.1:c.2193-1004= NM_001378554.1:c.2193-1004A>G
ATP6V0A1 transcript variant 30 NM_001378556.1:c.2123-1004= NM_001378556.1:c.2123-1004A>G
ATP6V0A1 transcript variant 31 NM_001378557.1:c.2123-1004= NM_001378557.1:c.2123-1004A>G
ATP6V0A1 transcript variant 3 NM_005177.3:c.2403-1004= NM_005177.3:c.2403-1004A>G
ATP6V0A1 transcript variant 3 NM_005177.5:c.2403-1004= NM_005177.5:c.2403-1004A>G
ATP6V0A1 transcript variant X1 XM_005257459.1:c.2442-1004= XM_005257459.1:c.2442-1004A>G
ATP6V0A1 transcript variant X2 XM_005257460.1:c.2292-1004= XM_005257460.1:c.2292-1004A>G
ATP6V0A1 transcript variant X11 XM_005257461.1:c.2270-1004= XM_005257461.1:c.2270-1004A>G
ATP6V0A1 transcript variant X4 XM_005257462.1:c.2274-1004= XM_005257462.1:c.2274-1004A>G
ATP6V0A1 transcript variant X6 XM_005257463.1:c.2252-1004= XM_005257463.1:c.2252-1004A>G
ATP6V0A1 transcript variant X7 XM_047436305.1:c.2144-1004= XM_047436305.1:c.2144-1004A>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#.

16 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss227548665 Jul 14, 2010 (132)
2 TISHKOFF ss565273884 Apr 25, 2013 (138)
3 JMKIDD_LAB ss1081059527 Aug 21, 2014 (142)
4 1000GENOMES ss1358657937 Aug 21, 2014 (142)
5 WEILL_CORNELL_DGM ss1936569071 Feb 12, 2016 (147)
6 HUMAN_LONGEVITY ss2216848828 Dec 20, 2016 (150)
7 GNOMAD ss2949875115 Nov 08, 2017 (151)
8 SGDP_PRJ ss3885751190 Apr 27, 2020 (154)
9 TOPMED ss5036004067 Apr 27, 2021 (155)
10 1000G_HIGH_COVERAGE ss5303135362 Oct 16, 2022 (156)
11 EVA ss5427599602 Oct 16, 2022 (156)
12 HUGCELL_USP ss5496191246 Oct 16, 2022 (156)
13 1000G_HIGH_COVERAGE ss5606856868 Oct 16, 2022 (156)
14 SANFORD_IMAGENETICS ss5660105346 Oct 16, 2022 (156)
15 EVA ss5913961583 Oct 16, 2022 (156)
16 EVA ss5951498858 Oct 16, 2022 (156)
17 1000Genomes NC_000017.10 - 40672041 Oct 12, 2018 (152)
18 1000Genomes_30x NC_000017.11 - 42520023 Oct 16, 2022 (156)
19 gnomAD - Genomes NC_000017.11 - 42520023 Apr 27, 2021 (155)
20 Qatari NC_000017.10 - 40672041 Apr 27, 2020 (154)
21 SGDP_PRJ NC_000017.10 - 40672041 Apr 27, 2020 (154)
22 TopMed NC_000017.11 - 42520023 Apr 27, 2021 (155)
23 ALFA NC_000017.11 - 42520023 Apr 27, 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
71899721, 18610993, 37768170, ss227548665, ss565273884, ss1081059527, ss1358657937, ss1936569071, ss2949875115, ss3885751190, ss5427599602, ss5660105346, ss5951498858 NC_000017.10:40672040:A:G NC_000017.11:42520022:A:G (self)
94382803, 507256137, 251549729, 14042078328, ss2216848828, ss5036004067, ss5303135362, ss5496191246, ss5606856868, ss5913961583 NC_000017.11:42520022:A:G NC_000017.11:42520022: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 rs115188066

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