Name: rs9442675
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.

rs9442675

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:62474807 (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 / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.277566 (73469/264690, TOPMED)
A=0.284061 (39664/139632, GnomAD)
A=0.14003 (3957/28258, 14KJPN) (+ 15 more)
A=0.25500 (4816/18886, ALFA)
A=0.2680 (1716/6404, 1000G_30x)
A=0.2606 (1305/5008, 1000G)
A=0.2512 (1125/4478, Estonian)
A=0.1982 (764/3854, ALSPAC)
A=0.2039 (756/3708, TWINSUK)
A=0.1585 (463/2922, KOREAN)
A=0.1463 (268/1832, Korea1K)
A=0.207 (207/998, GoNL)
A=0.233 (140/600, NorthernSweden)
A=0.148 (32/216, Qatari)
A=0.121 (26/214, Vietnamese)
G=0.440 (88/200, SGDP_PRJ)
A=0.23 (9/40, GENOME_DK)
G=0.35 (9/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	18886	G=0.74500	A=0.25500
European	Sub	14282	G=0.78112	A=0.21888
African	Sub	2946	G=0.5445	A=0.4555
African Others	Sub	114	G=0.500	A=0.500
African American	Sub	2832	G=0.5463	A=0.4537
Asian	Sub	112	G=0.920	A=0.080
East Asian	Sub	86	G=0.91	A=0.09
Other Asian	Sub	26	G=0.96	A=0.04
Latin American 1	Sub	146	G=0.678	A=0.322
Latin American 2	Sub	610	G=0.823	A=0.177
South Asian	Sub	98	G=0.88	A=0.12
Other	Sub	692	G=0.751	A=0.249

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=0.722434	A=0.277566
gnomAD - Genomes	Global	Study-wide	139632	G=0.715939	A=0.284061
gnomAD - Genomes	European	Sub	75710	G=0.78011	A=0.21989
gnomAD - Genomes	African	Sub	41730	G=0.55737	A=0.44263
gnomAD - Genomes	American	Sub	13604	G=0.78991	A=0.21009
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.7825	A=0.2175
gnomAD - Genomes	East Asian	Sub	3122	G=0.8712	A=0.1288
gnomAD - Genomes	Other	Sub	2146	G=0.7377	A=0.2623
14KJPN	JAPANESE	Study-wide	28258	G=0.85997	A=0.14003
Allele Frequency Aggregator	Total	Global	18886	G=0.74500	A=0.25500
Allele Frequency Aggregator	European	Sub	14282	G=0.78112	A=0.21888
Allele Frequency Aggregator	African	Sub	2946	G=0.5445	A=0.4555
Allele Frequency Aggregator	Other	Sub	692	G=0.751	A=0.249
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.823	A=0.177
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.678	A=0.322
Allele Frequency Aggregator	Asian	Sub	112	G=0.920	A=0.080
Allele Frequency Aggregator	South Asian	Sub	98	G=0.88	A=0.12
1000Genomes_30x	Global	Study-wide	6404	G=0.7320	A=0.2680
1000Genomes_30x	African	Sub	1786	G=0.5050	A=0.4950
1000Genomes_30x	Europe	Sub	1266	G=0.7859	A=0.2141
1000Genomes_30x	South Asian	Sub	1202	G=0.8128	A=0.1872
1000Genomes_30x	East Asian	Sub	1170	G=0.8650	A=0.1350
1000Genomes_30x	American	Sub	980	G=0.818	A=0.182
1000Genomes	Global	Study-wide	5008	G=0.7394	A=0.2606
1000Genomes	African	Sub	1322	G=0.5136	A=0.4864
1000Genomes	East Asian	Sub	1008	G=0.8651	A=0.1349
1000Genomes	Europe	Sub	1006	G=0.7823	A=0.2177
1000Genomes	South Asian	Sub	978	G=0.816	A=0.184
1000Genomes	American	Sub	694	G=0.817	A=0.183
Genetic variation in the Estonian population	Estonian	Study-wide	4478	G=0.7488	A=0.2512
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8018	A=0.1982
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7961	A=0.2039
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.8415	A=0.1585
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8537	A=0.1463
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.793	A=0.207
Northern Sweden	ACPOP	Study-wide	600	G=0.767	A=0.233
Qatari	Global	Study-wide	216	G=0.852	A=0.148
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.879	A=0.121
SGDP_PRJ	Global	Study-wide	200	G=0.440	A=0.560
The Danish reference pan genome	Danish	Study-wide	40	G=0.78	A=0.23
Siberian	Global	Study-wide	26	G=0.35	A=0.65

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 6	NC_000006.12:g.62474807G>A
GRCh38.p14 chr 6	NC_000006.12:g.62474807G>T
GRCh37.p13 chr 6	NC_000006.11:g.63184712G>A
GRCh37.p13 chr 6	NC_000006.11:g.63184712G>T

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	T
GRCh38.p14 chr 6	NC_000006.12:g.62474807=	NC_000006.12:g.62474807G>A	NC_000006.12:g.62474807G>T
GRCh37.p13 chr 6	NC_000006.11:g.63184712=	NC_000006.11:g.63184712G>A	NC_000006.11:g.63184712G>T

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#.

57 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss13053135	Dec 05, 2003 (119)
2	HGSV	ss79057610	Dec 07, 2007 (129)
3	HGSV	ss83690939	Dec 15, 2007 (130)
4	HGSV	ss85716817	Dec 15, 2007 (130)
5	COMPLETE_GENOMICS	ss162430060	Jul 04, 2010 (132)
6	COMPLETE_GENOMICS	ss163605253	Jul 04, 2010 (132)
7	COMPLETE_GENOMICS	ss166791663	Jul 04, 2010 (132)
8	BCM-HGSC-SUB	ss207855693	Jul 04, 2010 (132)
9	GMI	ss278831618	May 04, 2012 (137)
10	PJP	ss293617432	May 09, 2011 (134)
11	1000GENOMES	ss333327144	May 09, 2011 (134)
12	TISHKOFF	ss559244200	Apr 25, 2013 (138)
13	SSMP	ss653192484	Apr 25, 2013 (138)
14	EVA-GONL	ss983001823	Aug 21, 2014 (142)
15	JMKIDD_LAB	ss1073664708	Aug 21, 2014 (142)
16	1000GENOMES	ss1320403527	Aug 21, 2014 (142)
17	DDI	ss1430752375	Apr 01, 2015 (144)
18	EVA_GENOME_DK	ss1581701064	Apr 01, 2015 (144)
19	EVA_DECODE	ss1592538786	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1615710267	Apr 01, 2015 (144)
21	EVA_UK10K_TWINSUK	ss1658704300	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1804465753	Sep 08, 2015 (146)
23	WEILL_CORNELL_DGM	ss1926260579	Feb 12, 2016 (147)
24	JJLAB	ss2023770142	Sep 14, 2016 (149)
25	USC_VALOUEV	ss2151961578	Dec 20, 2016 (150)
26	SYSTEMSBIOZJU	ss2626378539	Nov 08, 2017 (151)
27	GRF	ss2707566493	Nov 08, 2017 (151)
28	GNOMAD	ss2839747998	Nov 08, 2017 (151)
29	SWEGEN	ss2999192021	Nov 08, 2017 (151)
30	BIOINF_KMB_FNS_UNIBA	ss3025676278	Nov 08, 2017 (151)
31	CSHL	ss3347007088	Nov 08, 2017 (151)
32	EGCUT_WGS	ss3667053482	Jul 13, 2019 (153)
33	EVA_DECODE	ss3717347403	Jul 13, 2019 (153)
34	ACPOP	ss3733564513	Jul 13, 2019 (153)
35	EVA	ss3765100893	Jul 13, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3808248782	Jul 13, 2019 (153)
37	EVA	ss3829957443	Apr 26, 2020 (154)
38	EVA	ss3838456591	Apr 26, 2020 (154)
39	EVA	ss3843903166	Apr 26, 2020 (154)
40	SGDP_PRJ	ss3864727590	Apr 26, 2020 (154)
41	KRGDB	ss3911577554	Apr 26, 2020 (154)
42	KOGIC	ss3959189539	Apr 26, 2020 (154)
43	TOPMED	ss4705443889	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5177813492	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5177813493	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5268699704	Oct 17, 2022 (156)
47	EVA	ss5366054429	Oct 17, 2022 (156)
48	HUGCELL_USP	ss5466321146	Oct 17, 2022 (156)
49	EVA	ss5508521629	Oct 17, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5554749133	Oct 17, 2022 (156)
51	SANFORD_IMAGENETICS	ss5640541413	Oct 17, 2022 (156)
52	TOMMO_GENOMICS	ss5716096338	Oct 17, 2022 (156)
53	YY_MCH	ss5807539647	Oct 17, 2022 (156)
54	EVA	ss5842345826	Oct 17, 2022 (156)
55	EVA	ss5855383555	Oct 17, 2022 (156)
56	EVA	ss5884082567	Oct 17, 2022 (156)
57	EVA	ss5969033032	Oct 17, 2022 (156)
58	1000Genomes	NC_000006.11 - 63184712	Oct 12, 2018 (152)
59	1000Genomes_30x	NC_000006.12 - 62474807	Oct 17, 2022 (156)
60	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 63184712	Oct 12, 2018 (152)
61	Genetic variation in the Estonian population	NC_000006.11 - 63184712	Oct 12, 2018 (152)
62	The Danish reference pan genome	NC_000006.11 - 63184712	Apr 26, 2020 (154)
63	gnomAD - Genomes	NC_000006.12 - 62474807	Apr 26, 2021 (155)
64	Genome of the Netherlands Release 5	NC_000006.11 - 63184712	Apr 26, 2020 (154)
65	KOREAN population from KRGDB	NC_000006.11 - 63184712	Apr 26, 2020 (154)
66	Korean Genome Project	NC_000006.12 - 62474807	Apr 26, 2020 (154)
67	Northern Sweden	NC_000006.11 - 63184712	Jul 13, 2019 (153)
68	Qatari	NC_000006.11 - 63184712	Apr 26, 2020 (154)
69	SGDP_PRJ	NC_000006.11 - 63184712	Apr 26, 2020 (154)
70	Siberian	NC_000006.11 - 63184712	Apr 26, 2020 (154)
71	8.3KJPN Submission ignored due to conflicting rows: Row 35782799 (NC_000006.11:63184711:G:A 2339/16760) Row 35782800 (NC_000006.11:63184711:G:T 1/16760)	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 35782799 (NC_000006.11:63184711:G:A 2339/16760) Row 35782800 (NC_000006.11:63184711:G:T 1/16760)	-	Apr 26, 2021 (155)
73	14KJPN	NC_000006.12 - 62474807	Oct 17, 2022 (156)
74	TopMed	NC_000006.12 - 62474807	Apr 26, 2021 (155)
75	UK 10K study - Twins	NC_000006.11 - 63184712	Oct 12, 2018 (152)
76	A Vietnamese Genetic Variation Database	NC_000006.11 - 63184712	Jul 13, 2019 (153)
77	ALFA	NC_000006.12 - 62474807	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)
rs59488049	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss79057610, ss83690939, ss85716817	NC_000006.9:63242670:G:A	NC_000006.12:62474806:G:A	(self)
ss162430060, ss163605253, ss166791663, ss207855693, ss278831618, ss293617432, ss1592538786	NC_000006.10:63242670:G:A	NC_000006.12:62474806:G:A	(self)
32201415, 17943683, 12791730, 7866003, 7989478, 18754948, 6849378, 8302509, 16744570, 4477932, 17943683, 3982379, ss333327144, ss559244200, ss653192484, ss983001823, ss1073664708, ss1320403527, ss1430752375, ss1581701064, ss1615710267, ss1658704300, ss1804465753, ss1926260579, ss2023770142, ss2151961578, ss2626378539, ss2707566493, ss2839747998, ss2999192021, ss3347007088, ss3667053482, ss3733564513, ss3765100893, ss3829957443, ss3838456591, ss3864727590, ss3911577554, ss5177813492, ss5366054429, ss5508521629, ss5640541413, ss5842345826, ss5969033032	NC_000006.11:63184711:G:A	NC_000006.12:62474806:G:A	(self)
42275068, 227290784, 15567540, 49933442, 542821447, 3690096365, ss3025676278, ss3717347403, ss3808248782, ss3843903166, ss3959189539, ss4705443889, ss5268699704, ss5466321146, ss5554749133, ss5716096338, ss5807539647, ss5855383555, ss5884082567	NC_000006.12:62474806:G:A	NC_000006.12:62474806:G:A	(self)
ss13053135	NT_007299.12:1006122:G:A	NC_000006.12:62474806:G:A	(self)
ss5177813493	NC_000006.11:63184711:G:T	NC_000006.12:62474806:G:T	(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 rs9442675

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

rs9442675