Name: rs7799422
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.

rs7799422

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:23088794 (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=0.475205 (125782/264690, TOPMED)
A=0.474191 (66179/139562, GnomAD)
A=0.35250 (9961/28258, 14KJPN) (+ 17 more)
A=0.42869 (8098/18890, ALFA)
A=0.35273 (5911/16758, 8.3KJPN)
A=0.4566 (2924/6404, 1000G_30x)
A=0.4489 (2248/5008, 1000G)
A=0.3754 (1682/4480, Estonian)
A=0.3677 (1417/3854, ALSPAC)
A=0.3687 (1367/3708, TWINSUK)
A=0.2945 (863/2930, KOREAN)
A=0.367 (366/998, GoNL)
A=0.313 (188/600, NorthernSweden)
G=0.319 (113/354, SGDP_PRJ)
G=0.479 (158/330, HapMap)
A=0.356 (77/216, Qatari)
A=0.284 (59/208, Vietnamese)
G=0.50 (20/40, GENOME_DK)
A=0.50 (20/40, GENOME_DK)
G=0.38 (10/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC105375186 : 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	18890	G=0.57131	A=0.42869
European	Sub	14286	G=0.62460	A=0.37540
African	Sub	2946	G=0.2729	A=0.7271
African Others	Sub	114	G=0.193	A=0.807
African American	Sub	2832	G=0.2761	A=0.7239
Asian	Sub	112	G=0.607	A=0.393
East Asian	Sub	86	G=0.64	A=0.36
Other Asian	Sub	26	G=0.50	A=0.50
Latin American 1	Sub	146	G=0.500	A=0.500
Latin American 2	Sub	610	G=0.777	A=0.223
South Asian	Sub	98	G=0.71	A=0.29
Other	Sub	692	G=0.549	A=0.451

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.524795	A=0.475205
gnomAD - Genomes	Global	Study-wide	139562	G=0.525809	A=0.474191
gnomAD - Genomes	European	Sub	75582	G=0.63465	A=0.36535
gnomAD - Genomes	African	Sub	41826	G=0.27041	A=0.72959
gnomAD - Genomes	American	Sub	13574	G=0.64734	A=0.35266
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.6103	A=0.3897
gnomAD - Genomes	East Asian	Sub	3120	G=0.6878	A=0.3122
gnomAD - Genomes	Other	Sub	2142	G=0.5355	A=0.4645
14KJPN	JAPANESE	Study-wide	28258	G=0.64750	A=0.35250
Allele Frequency Aggregator	Total	Global	18890	G=0.57131	A=0.42869
Allele Frequency Aggregator	European	Sub	14286	G=0.62460	A=0.37540
Allele Frequency Aggregator	African	Sub	2946	G=0.2729	A=0.7271
Allele Frequency Aggregator	Other	Sub	692	G=0.549	A=0.451
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.777	A=0.223
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.500	A=0.500
Allele Frequency Aggregator	Asian	Sub	112	G=0.607	A=0.393
Allele Frequency Aggregator	South Asian	Sub	98	G=0.71	A=0.29
8.3KJPN	JAPANESE	Study-wide	16758	G=0.64727	A=0.35273
1000Genomes_30x	Global	Study-wide	6404	G=0.5434	A=0.4566
1000Genomes_30x	African	Sub	1786	G=0.1831	A=0.8169
1000Genomes_30x	Europe	Sub	1266	G=0.6556	A=0.3444
1000Genomes_30x	South Asian	Sub	1202	G=0.7363	A=0.2637
1000Genomes_30x	East Asian	Sub	1170	G=0.6658	A=0.3342
1000Genomes_30x	American	Sub	980	G=0.672	A=0.328
1000Genomes	Global	Study-wide	5008	G=0.5511	A=0.4489
1000Genomes	African	Sub	1322	G=0.1846	A=0.8154
1000Genomes	East Asian	Sub	1008	G=0.6607	A=0.3393
1000Genomes	Europe	Sub	1006	G=0.6531	A=0.3469
1000Genomes	South Asian	Sub	978	G=0.740	A=0.260
1000Genomes	American	Sub	694	G=0.676	A=0.324
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6246	A=0.3754
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6323	A=0.3677
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6313	A=0.3687
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7055	A=0.2945
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.633	A=0.367
Northern Sweden	ACPOP	Study-wide	600	G=0.687	A=0.313
SGDP_PRJ	Global	Study-wide	354	G=0.319	A=0.681
HapMap	Global	Study-wide	330	G=0.479	A=0.521
HapMap	African	Sub	120	G=0.233	A=0.767
HapMap	American	Sub	120	G=0.625	A=0.375
HapMap	Asian	Sub	90	G=0.61	A=0.39
Qatari	Global	Study-wide	216	G=0.644	A=0.356
A Vietnamese Genetic Variation Database	Global	Study-wide	208	G=0.716	A=0.284
The Danish reference pan genome	Danish	Study-wide	40	G=0.50	A=0.50
Siberian	Global	Study-wide	26	G=0.38	A=0.62

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 7	NC_000007.14:g.23088794G>A
GRCh37.p13 chr 7	NC_000007.13:g.23128413G>A

Gene: LOC105375186, uncharacterized LOC105375186 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105375186 transcript	XR_927096.2:n.	N/A	Intron 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	G=	A
GRCh38.p14 chr 7	NC_000007.14:g.23088794=	NC_000007.14:g.23088794G>A
GRCh37.p13 chr 7	NC_000007.13:g.23128413=	NC_000007.13:g.23128413G>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#.

56 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11884916	Jul 11, 2003 (116)
2	WUGSC_SSAHASNP	ss14566822	Dec 05, 2003 (120)
3	CSHL-HAPMAP	ss17935527	Feb 27, 2004 (120)
4	1000GENOMES	ss113457709	Jan 25, 2009 (130)
5	ILLUMINA-UK	ss115981366	Feb 14, 2009 (130)
6	COMPLETE_GENOMICS	ss162129536	Jul 04, 2010 (132)
7	COMPLETE_GENOMICS	ss163821041	Jul 04, 2010 (132)
8	BUSHMAN	ss203071109	Jul 04, 2010 (132)
9	1000GENOMES	ss222961052	Jul 14, 2010 (132)
10	1000GENOMES	ss233888734	Jul 15, 2010 (132)
11	1000GENOMES	ss240861623	Jul 15, 2010 (132)
12	GMI	ss279223636	May 04, 2012 (137)
13	TISHKOFF	ss559866607	Apr 25, 2013 (138)
14	SSMP	ss654219184	Apr 25, 2013 (138)
15	EVA-GONL	ss984048869	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1074440026	Aug 21, 2014 (142)
17	1000GENOMES	ss1324292430	Aug 21, 2014 (142)
18	DDI	ss1431057319	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1582110696	Apr 01, 2015 (144)
20	EVA_DECODE	ss1593617368	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1617765146	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1660759179	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1804910761	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1927294757	Feb 12, 2016 (147)
25	GENOMED	ss1970648260	Jul 19, 2016 (147)
26	JJLAB	ss2024323701	Sep 14, 2016 (149)
27	USC_VALOUEV	ss2152519657	Dec 20, 2016 (150)
28	HUMAN_LONGEVITY	ss2292414509	Dec 20, 2016 (150)
29	SYSTEMSBIOZJU	ss2626650932	Nov 08, 2017 (151)
30	GRF	ss2708176016	Nov 08, 2017 (151)
31	GNOMAD	ss2850774031	Nov 08, 2017 (151)
32	SWEGEN	ss3000771997	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3025956043	Nov 08, 2017 (151)
34	CSHL	ss3347481585	Nov 08, 2017 (151)
35	EGCUT_WGS	ss3668700225	Jul 13, 2019 (153)
36	EVA_DECODE	ss3719277527	Jul 13, 2019 (153)
37	ACPOP	ss3734439442	Jul 13, 2019 (153)
38	EVA	ss3766299694	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3809467133	Jul 13, 2019 (153)
40	EVA	ss3830463234	Apr 26, 2020 (154)
41	SGDP_PRJ	ss3866823667	Apr 26, 2020 (154)
42	KRGDB	ss3913859311	Apr 26, 2020 (154)
43	TOPMED	ss4738709929	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5182207995	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5272144449	Oct 14, 2022 (156)
46	EVA	ss5372222015	Oct 14, 2022 (156)
47	HUGCELL_USP	ss5469397590	Oct 14, 2022 (156)
48	EVA	ss5508879902	Oct 14, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5559947411	Oct 14, 2022 (156)
50	SANFORD_IMAGENETICS	ss5642529615	Oct 14, 2022 (156)
51	TOMMO_GENOMICS	ss5721772007	Oct 14, 2022 (156)
52	YY_MCH	ss5808414955	Oct 14, 2022 (156)
53	EVA	ss5822531929	Oct 14, 2022 (156)
54	EVA	ss5855803209	Oct 14, 2022 (156)
55	EVA	ss5858068820	Oct 14, 2022 (156)
56	EVA	ss5971728435	Oct 14, 2022 (156)
57	1000Genomes	NC_000007.13 - 23128413	Oct 12, 2018 (152)
58	1000Genomes_30x	NC_000007.14 - 23088794	Oct 14, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 23128413	Oct 12, 2018 (152)
60	Genetic variation in the Estonian population	NC_000007.13 - 23128413	Oct 12, 2018 (152)
61	The Danish reference pan genome	NC_000007.13 - 23128413	Apr 26, 2020 (154)
62	gnomAD - Genomes	NC_000007.14 - 23088794	Apr 26, 2021 (155)
63	Genome of the Netherlands Release 5	NC_000007.13 - 23128413	Apr 26, 2020 (154)
64	HapMap	NC_000007.14 - 23088794	Apr 26, 2020 (154)
65	KOREAN population from KRGDB	NC_000007.13 - 23128413	Apr 26, 2020 (154)
66	Northern Sweden	NC_000007.13 - 23128413	Jul 13, 2019 (153)
67	Qatari	NC_000007.13 - 23128413	Apr 26, 2020 (154)
68	SGDP_PRJ	NC_000007.13 - 23128413	Apr 26, 2020 (154)
69	Siberian	NC_000007.13 - 23128413	Apr 26, 2020 (154)
70	8.3KJPN	NC_000007.13 - 23128413	Apr 26, 2021 (155)
71	14KJPN	NC_000007.14 - 23088794	Oct 14, 2022 (156)
72	TopMed	NC_000007.14 - 23088794	Apr 26, 2021 (155)
73	UK 10K study - Twins	NC_000007.13 - 23128413	Oct 12, 2018 (152)
74	A Vietnamese Genetic Variation Database	NC_000007.13 - 23128413	Jul 13, 2019 (153)
75	ALFA	NC_000007.14 - 23088794	Apr 26, 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).

Associated ID	History Updated (Build)
rs10361421	Feb 27, 2004 (120)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss113457709, ss115981366, ss162129536, ss163821041, ss203071109, ss279223636, ss1593617368	NC_000007.12:23094937:G:A	NC_000007.14:23088793:G:A	(self)
36232735, 20198134, 14438473, 8275635, 9004901, 21036705, 7724307, 9336687, 18840647, 5036011, 40177302, 20198134, 4500403, ss222961052, ss233888734, ss240861623, ss559866607, ss654219184, ss984048869, ss1074440026, ss1324292430, ss1431057319, ss1582110696, ss1617765146, ss1660759179, ss1804910761, ss1927294757, ss1970648260, ss2024323701, ss2152519657, ss2626650932, ss2708176016, ss2850774031, ss3000771997, ss3347481585, ss3668700225, ss3734439442, ss3766299694, ss3830463234, ss3866823667, ss3913859311, ss5182207995, ss5372222015, ss5508879902, ss5642529615, ss5822531929, ss5971728435	NC_000007.13:23128412:G:A	NC_000007.14:23088793:G:A	(self)
47473346, 255480509, 3355909, 55609111, 576087488, 9262726254, ss2292414509, ss3025956043, ss3719277527, ss3809467133, ss4738709929, ss5272144449, ss5469397590, ss5559947411, ss5721772007, ss5808414955, ss5855803209, ss5858068820	NC_000007.14:23088793:G:A	NC_000007.14:23088793:G:A	(self)
ss11884916	NT_007819.13:22422020:G:A	NC_000007.14:23088793:G:A	(self)
ss14566822, ss17935527	NT_007819.14:22422020:G:A	NC_000007.14:23088793:G: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 rs7799422

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs7799422