Name: rs117018113
Published: September 21, 2022
License: Open Access

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.

rs117018113

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:42520520 (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: T>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.004571 (1210/264690, TOPMED)
A=0.003377 (473/140080, GnomAD)
A=0.008425 (1134/134600, GnomAD_exome) (+ 14 more)
A=0.06257 (1768/28258, 14KJPN)
A=0.00183 (51/27878, ALFA)
A=0.06158 (1032/16760, 8.3KJPN)
A=0.00341 (42/12326, ExAC)
A=0.0184 (118/6404, 1000G_30x)
A=0.0200 (100/5008, 1000G)
A=0.0002 (1/4480, Estonian)
A=0.0000 (0/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
A=0.0681 (199/2922, KOREAN)
A=0.0644 (118/1832, Korea1K)
A=0.005 (1/216, Qatari)
A=0.153 (33/216, Vietnamese)
T=0.46 (13/28, 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	27878	T=0.99817	A=0.00183
European	Sub	20348	T=0.99956	A=0.00044
African	Sub	3540	T=0.9983	A=0.0017
African Others	Sub	122	T=0.992	A=0.008
African American	Sub	3418	T=0.9985	A=0.0015
Asian	Sub	168	T=0.863	A=0.137
East Asian	Sub	112	T=0.902	A=0.098
Other Asian	Sub	56	T=0.79	A=0.21
Latin American 1	Sub	146	T=1.000	A=0.000
Latin American 2	Sub	610	T=1.000	A=0.000
South Asian	Sub	98	T=1.00	A=0.00
Other	Sub	2968	T=0.9956	A=0.0044

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	T=0.995429	A=0.004571
gnomAD - Genomes	Global	Study-wide	140080	T=0.996623	A=0.003377
gnomAD - Genomes	European	Sub	75882	T=0.99989	A=0.00011
gnomAD - Genomes	African	Sub	41978	T=0.99879	A=0.00121
gnomAD - Genomes	American	Sub	13620	T=0.99912	A=0.00088
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.9955	A=0.0045
gnomAD - Genomes	East Asian	Sub	3126	T=0.8813	A=0.1187
gnomAD - Genomes	Other	Sub	2150	T=0.9926	A=0.0074
gnomAD - Exomes	Global	Study-wide	134600	T=0.991575	A=0.008425
gnomAD - Exomes	European	Sub	58250	T=0.99993	A=0.00007
gnomAD - Exomes	Asian	Sub	32996	T=0.96781	A=0.03219
gnomAD - Exomes	American	Sub	24474	T=0.99980	A=0.00020
gnomAD - Exomes	Ashkenazi Jewish	Sub	8294	T=0.9961	A=0.0039
gnomAD - Exomes	African	Sub	6440	T=0.9995	A=0.0005
gnomAD - Exomes	Other	Sub	4146	T=0.9932	A=0.0068
14KJPN	JAPANESE	Study-wide	28258	T=0.93743	A=0.06257
Allele Frequency Aggregator	Total	Global	27878	T=0.99817	A=0.00183
Allele Frequency Aggregator	European	Sub	20348	T=0.99956	A=0.00044
Allele Frequency Aggregator	African	Sub	3540	T=0.9983	A=0.0017
Allele Frequency Aggregator	Other	Sub	2968	T=0.9956	A=0.0044
Allele Frequency Aggregator	Latin American 2	Sub	610	T=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	168	T=0.863	A=0.137
Allele Frequency Aggregator	Latin American 1	Sub	146	T=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	T=1.00	A=0.00
8.3KJPN	JAPANESE	Study-wide	16760	T=0.93842	A=0.06158
ExAC	Global	Study-wide	12326	T=0.99659	A=0.00341
ExAC	Asian	Sub	7818	T=0.9962	A=0.0038
ExAC	Europe	Sub	3628	T=0.9975	A=0.0025
ExAC	African	Sub	560	T=0.998	A=0.002
ExAC	American	Sub	188	T=1.000	A=0.000
ExAC	Other	Sub	132	T=0.985	A=0.015
1000Genomes_30x	Global	Study-wide	6404	T=0.9816	A=0.0184
1000Genomes_30x	African	Sub	1786	T=0.9989	A=0.0011
1000Genomes_30x	Europe	Sub	1266	T=1.0000	A=0.0000
1000Genomes_30x	South Asian	Sub	1202	T=0.9975	A=0.0025
1000Genomes_30x	East Asian	Sub	1170	T=0.9051	A=0.0949
1000Genomes_30x	American	Sub	980	T=0.998	A=0.002
1000Genomes	Global	Study-wide	5008	T=0.9800	A=0.0200
1000Genomes	African	Sub	1322	T=0.9992	A=0.0008
1000Genomes	East Asian	Sub	1008	T=0.9058	A=0.0942
1000Genomes	Europe	Sub	1006	T=1.0000	A=0.0000
1000Genomes	South Asian	Sub	978	T=0.997	A=0.003
1000Genomes	American	Sub	694	T=0.999	A=0.001
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9998	A=0.0002
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=1.0000	A=0.0000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9997	A=0.0003
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9319	A=0.0681
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9356	A=0.0644
Qatari	Global	Study-wide	216	T=0.995	A=0.005
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.847	A=0.153
SGDP_PRJ	Global	Study-wide	28	T=0.46	A=0.54

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.42520520T>A
GRCh37.p13 chr 17	NC_000017.10:g.40672538T>A
ATP6V0A1 RefSeqGene	NG_047037.1:g.66677T>A

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.2424-507… NM_001130020.3:c.2424-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 1	NM_001130021.3:c.2421-507… NM_001130021.3:c.2421-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 4	NM_001378522.1:c.2442-507… NM_001378522.1:c.2442-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 5	NM_001378523.1:c.2316-507… NM_001378523.1:c.2316-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 6	NM_001378530.1:c.2619-507… NM_001378530.1:c.2619-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 7	NM_001378531.1:c.2565-507… NM_001378531.1:c.2565-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 8	NM_001378532.1:c.2547-507… NM_001378532.1:c.2547-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 9	NM_001378533.1:c.2544-507… NM_001378533.1:c.2544-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 10	NM_001378534.1:c.2517-507… NM_001378534.1:c.2517-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 11	NM_001378535.1:c.2496-507… NM_001378535.1:c.2496-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 12	NM_001378536.1:c.2313-507… NM_001378536.1:c.2313-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 13	NM_001378537.1:c.2295-507… NM_001378537.1:c.2295-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 14	NM_001378538.1:c.2292-507… NM_001378538.1:c.2292-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 15	NM_001378539.1:c.2270-507… NM_001378539.1:c.2270-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 16	NM_001378540.1:c.2274-507… NM_001378540.1:c.2274-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 17	NM_001378541.1:c.2252-507… NM_001378541.1:c.2252-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 18	NM_001378542.1:c.2249-507… NM_001378542.1:c.2249-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 19	NM_001378543.1:c.2244-507… NM_001378543.1:c.2244-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 20	NM_001378544.1:c.2231-507… NM_001378544.1:c.2231-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 21	NM_001378545.1:c.2211-507… NM_001378545.1:c.2211-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 22	NM_001378546.1:c.2208-507… NM_001378546.1:c.2208-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 23	NM_001378547.1:c.2190-507… NM_001378547.1:c.2190-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 24	NM_001378548.1:c.2175-507… NM_001378548.1:c.2175-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 25	NM_001378549.1:c.2241-507… NM_001378549.1:c.2241-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 26	NM_001378550.1:c.2295-507… NM_001378550.1:c.2295-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 27	NM_001378551.1:c.2526-507… NM_001378551.1:c.2526-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 28	NM_001378552.1:c.2354-507… NM_001378552.1:c.2354-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 29	NM_001378554.1:c.2193-507… NM_001378554.1:c.2193-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 30	NM_001378556.1:c.2123-507… NM_001378556.1:c.2123-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 31	NM_001378557.1:c.2123-507… NM_001378557.1:c.2123-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant 3	NM_005177.5:c.2403-507T>A	N/A	Intron Variant
ATP6V0A1 transcript variant X7	XM_047436305.1:c.2144-507… XM_047436305.1:c.2144-507T>A	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.5594T>A	N/A	Non Coding Transcript Variant
ATP6V0A1 transcript variant X3	XR_007065304.1:n.5576T>A	N/A	Non Coding Transcript Variant
ATP6V0A1 transcript variant X4	XR_007065305.1:n.5555T>A	N/A	Non Coding Transcript Variant
ATP6V0A1 transcript variant X5	XR_007065306.1:n.5468T>A	N/A	Non Coding Transcript Variant
ATP6V0A1 transcript variant X6	XR_007065307.1:n.5447T>A	N/A	Non Coding Transcript Variant

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

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	T=	A
GRCh38.p14 chr 17	NC_000017.11:g.42520520=	NC_000017.11:g.42520520T>A
GRCh37.p13 chr 17	NC_000017.10:g.40672538=	NC_000017.10:g.40672538T>A
ATP6V0A1 RefSeqGene	NG_047037.1:g.66677=	NG_047037.1:g.66677T>A
ATP6V0A1 transcript variant X2	XR_007065303.1:n.5594=	XR_007065303.1:n.5594T>A
ATP6V0A1 transcript variant X3	XR_007065304.1:n.5576=	XR_007065304.1:n.5576T>A
ATP6V0A1 transcript variant X4	XR_007065305.1:n.5555=	XR_007065305.1:n.5555T>A
ATP6V0A1 transcript variant X5	XR_007065306.1:n.5468=	XR_007065306.1:n.5468T>A
ATP6V0A1 transcript variant X6	XR_007065307.1:n.5447=	XR_007065307.1:n.5447T>A
ATP6V0A1 transcript variant 1	NM_001130020.1:c.2424-507=	NM_001130020.1:c.2424-507T>A
ATP6V0A1 transcript variant 2	NM_001130020.3:c.2424-507=	NM_001130020.3:c.2424-507T>A
ATP6V0A1 transcript variant 2	NM_001130021.1:c.2421-507=	NM_001130021.1:c.2421-507T>A
ATP6V0A1 transcript variant 1	NM_001130021.3:c.2421-507=	NM_001130021.3:c.2421-507T>A
ATP6V0A1 transcript variant 4	NM_001378522.1:c.2442-507=	NM_001378522.1:c.2442-507T>A
ATP6V0A1 transcript variant 5	NM_001378523.1:c.2316-507=	NM_001378523.1:c.2316-507T>A
ATP6V0A1 transcript variant 6	NM_001378530.1:c.2619-507=	NM_001378530.1:c.2619-507T>A
ATP6V0A1 transcript variant 7	NM_001378531.1:c.2565-507=	NM_001378531.1:c.2565-507T>A
ATP6V0A1 transcript variant 8	NM_001378532.1:c.2547-507=	NM_001378532.1:c.2547-507T>A
ATP6V0A1 transcript variant 9	NM_001378533.1:c.2544-507=	NM_001378533.1:c.2544-507T>A
ATP6V0A1 transcript variant 10	NM_001378534.1:c.2517-507=	NM_001378534.1:c.2517-507T>A
ATP6V0A1 transcript variant 11	NM_001378535.1:c.2496-507=	NM_001378535.1:c.2496-507T>A
ATP6V0A1 transcript variant 12	NM_001378536.1:c.2313-507=	NM_001378536.1:c.2313-507T>A
ATP6V0A1 transcript variant 13	NM_001378537.1:c.2295-507=	NM_001378537.1:c.2295-507T>A
ATP6V0A1 transcript variant 14	NM_001378538.1:c.2292-507=	NM_001378538.1:c.2292-507T>A
ATP6V0A1 transcript variant 15	NM_001378539.1:c.2270-507=	NM_001378539.1:c.2270-507T>A
ATP6V0A1 transcript variant 16	NM_001378540.1:c.2274-507=	NM_001378540.1:c.2274-507T>A
ATP6V0A1 transcript variant 17	NM_001378541.1:c.2252-507=	NM_001378541.1:c.2252-507T>A
ATP6V0A1 transcript variant 18	NM_001378542.1:c.2249-507=	NM_001378542.1:c.2249-507T>A
ATP6V0A1 transcript variant 19	NM_001378543.1:c.2244-507=	NM_001378543.1:c.2244-507T>A
ATP6V0A1 transcript variant 20	NM_001378544.1:c.2231-507=	NM_001378544.1:c.2231-507T>A
ATP6V0A1 transcript variant 21	NM_001378545.1:c.2211-507=	NM_001378545.1:c.2211-507T>A
ATP6V0A1 transcript variant 22	NM_001378546.1:c.2208-507=	NM_001378546.1:c.2208-507T>A
ATP6V0A1 transcript variant 23	NM_001378547.1:c.2190-507=	NM_001378547.1:c.2190-507T>A
ATP6V0A1 transcript variant 24	NM_001378548.1:c.2175-507=	NM_001378548.1:c.2175-507T>A
ATP6V0A1 transcript variant 25	NM_001378549.1:c.2241-507=	NM_001378549.1:c.2241-507T>A
ATP6V0A1 transcript variant 26	NM_001378550.1:c.2295-507=	NM_001378550.1:c.2295-507T>A
ATP6V0A1 transcript variant 27	NM_001378551.1:c.2526-507=	NM_001378551.1:c.2526-507T>A
ATP6V0A1 transcript variant 28	NM_001378552.1:c.2354-507=	NM_001378552.1:c.2354-507T>A
ATP6V0A1 transcript variant 29	NM_001378554.1:c.2193-507=	NM_001378554.1:c.2193-507T>A
ATP6V0A1 transcript variant 30	NM_001378556.1:c.2123-507=	NM_001378556.1:c.2123-507T>A
ATP6V0A1 transcript variant 31	NM_001378557.1:c.2123-507=	NM_001378557.1:c.2123-507T>A
ATP6V0A1 transcript variant 3	NM_005177.3:c.2403-507=	NM_005177.3:c.2403-507T>A
ATP6V0A1 transcript variant 3	NM_005177.5:c.2403-507=	NM_005177.5:c.2403-507T>A
ATP6V0A1 transcript variant X1	XM_005257459.1:c.2442-507=	XM_005257459.1:c.2442-507T>A
ATP6V0A1 transcript variant X2	XM_005257460.1:c.2292-507=	XM_005257460.1:c.2292-507T>A
ATP6V0A1 transcript variant X11	XM_005257461.1:c.2270-507=	XM_005257461.1:c.2270-507T>A
ATP6V0A1 transcript variant X4	XM_005257462.1:c.2274-507=	XM_005257462.1:c.2274-507T>A
ATP6V0A1 transcript variant X6	XM_005257463.1:c.2252-507=	XM_005257463.1:c.2252-507T>A
ATP6V0A1 transcript variant X7	XM_047436305.1:c.2144-507=	XM_047436305.1:c.2144-507T>A

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#.

35 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss243542341	Jul 15, 2010 (132)
2	JMKIDD_LAB	ss1081059530	Aug 21, 2014 (142)
3	1000GENOMES	ss1358657948	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1635654392	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1678648425	Apr 01, 2015 (144)
6	EVA_EXAC	ss1692788576	Apr 01, 2015 (144)
7	WEILL_CORNELL_DGM	ss1936569074	Feb 12, 2016 (147)
8	HUMAN_LONGEVITY	ss2216848856	Dec 20, 2016 (150)
9	GRF	ss2702093980	Nov 08, 2017 (151)
10	GNOMAD	ss2742731416	Nov 08, 2017 (151)
11	GNOMAD	ss2749779114	Nov 08, 2017 (151)
12	GNOMAD	ss2949875145	Nov 08, 2017 (151)
13	ILLUMINA	ss3021780165	Nov 08, 2017 (151)
14	ILLUMINA	ss3652196649	Oct 12, 2018 (152)
15	EGCUT_WGS	ss3682423906	Jul 13, 2019 (153)
16	EVA_DECODE	ss3700467247	Jul 13, 2019 (153)
17	ILLUMINA	ss3725621660	Jul 13, 2019 (153)
18	EVA	ss3754668423	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3819937915	Jul 13, 2019 (153)
20	SGDP_PRJ	ss3885751198	Apr 27, 2020 (154)
21	KRGDB	ss3935435962	Apr 27, 2020 (154)
22	KOGIC	ss3978844054	Apr 27, 2020 (154)
23	TOPMED	ss5036004203	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5222417368	Apr 27, 2021 (155)
25	EVA	ss5236943201	Apr 27, 2021 (155)
26	1000G_HIGH_COVERAGE	ss5303135372	Oct 16, 2022 (156)
27	EVA	ss5427599624	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5496191257	Oct 16, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5606856888	Oct 16, 2022 (156)
30	SANFORD_IMAGENETICS	ss5660105355	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5778625691	Oct 16, 2022 (156)
32	YY_MCH	ss5816543806	Oct 16, 2022 (156)
33	EVA	ss5851809228	Oct 16, 2022 (156)
34	EVA	ss5913961596	Oct 16, 2022 (156)
35	EVA	ss5951498864	Oct 16, 2022 (156)
36	1000Genomes	NC_000017.10 - 40672538	Oct 12, 2018 (152)
37	1000Genomes_30x	NC_000017.11 - 42520520	Oct 16, 2022 (156)
38	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 40672538	Oct 12, 2018 (152)
39	Genetic variation in the Estonian population	NC_000017.10 - 40672538	Oct 12, 2018 (152)
40	ExAC	NC_000017.10 - 40672538	Oct 12, 2018 (152)
41	gnomAD - Genomes	NC_000017.11 - 42520520	Apr 27, 2021 (155)
42	gnomAD - Exomes	NC_000017.10 - 40672538	Jul 13, 2019 (153)
43	KOREAN population from KRGDB	NC_000017.10 - 40672538	Apr 27, 2020 (154)
44	Korean Genome Project	NC_000017.11 - 42520520	Apr 27, 2020 (154)
45	Qatari	NC_000017.10 - 40672538	Apr 27, 2020 (154)
46	SGDP_PRJ	NC_000017.10 - 40672538	Apr 27, 2020 (154)
47	8.3KJPN	NC_000017.10 - 40672538	Apr 27, 2021 (155)
48	14KJPN	NC_000017.11 - 42520520	Oct 16, 2022 (156)
49	TopMed	NC_000017.11 - 42520520	Apr 27, 2021 (155)
50	UK 10K study - Twins	NC_000017.10 - 40672538	Oct 12, 2018 (152)
51	A Vietnamese Genetic Variation Database	NC_000017.10 - 40672538	Jul 13, 2019 (153)
52	ALFA	NC_000017.11 - 42520520	Apr 27, 2021 (155)

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
71899733, 39850249, 28162154, 3232685, 12035918, 42613356, 18610996, 37768178, 80386675, 39850249, 8818560, ss243542341, ss1081059530, ss1358657948, ss1635654392, ss1678648425, ss1692788576, ss1936569074, ss2702093980, ss2742731416, ss2749779114, ss2949875145, ss3021780165, ss3652196649, ss3682423906, ss3754668423, ss3885751198, ss3935435962, ss5222417368, ss5427599624, ss5660105355, ss5951498864	NC_000017.10:40672537:T:A	NC_000017.11:42520519:T:A	(self)
94382823, 507256230, 35222055, 112462795, 251549865, 2500525920, ss2216848856, ss3700467247, ss3725621660, ss3819937915, ss3978844054, ss5036004203, ss5236943201, ss5303135372, ss5496191257, ss5606856888, ss5778625691, ss5816543806, ss5851809228, ss5913961596	NC_000017.11:42520519:T:A	NC_000017.11:42520519:T:A	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs117018113

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs117018113