Name: rs9442686
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.

rs9442686

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:71616246 (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: C>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.170396 (45102/264690, TOPMED)
A=0.151069 (21156/140042, GnomAD)
A=0.24535 (6933/28258, 14KJPN) (+ 17 more)
A=0.11800 (2229/18890, ALFA)
A=0.24314 (4075/16760, 8.3KJPN)
A=0.1949 (1248/6404, 1000G_30x)
A=0.1913 (958/5008, 1000G)
A=0.0743 (333/4480, Estonian)
A=0.0859 (331/3854, ALSPAC)
A=0.0898 (333/3708, TWINSUK)
A=0.1939 (568/2930, KOREAN)
A=0.1971 (361/1832, Korea1K)
A=0.083 (83/998, GoNL)
A=0.038 (23/600, NorthernSweden)
A=0.222 (48/216, Qatari)
C=0.356 (77/216, SGDP_PRJ)
A=0.126 (27/214, Vietnamese)
A=0.05 (2/40, GENOME_DK)
C=0.5 (5/10, Siberian)
A=0.5 (5/10, 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	18890	C=0.88200	A=0.11800
European	Sub	14286	C=0.91964	A=0.08036
African	Sub	2946	C=0.7417	A=0.2583
African Others	Sub	114	C=0.798	A=0.202
African American	Sub	2832	C=0.7394	A=0.2606
Asian	Sub	112	C=0.848	A=0.152
East Asian	Sub	86	C=0.84	A=0.16
Other Asian	Sub	26	C=0.88	A=0.12
Latin American 1	Sub	146	C=0.849	A=0.151
Latin American 2	Sub	610	C=0.720	A=0.280
South Asian	Sub	98	C=0.93	A=0.07
Other	Sub	692	C=0.851	A=0.149

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	C=0.829604	A=0.170396
gnomAD - Genomes	Global	Study-wide	140042	C=0.848931	A=0.151069
gnomAD - Genomes	European	Sub	75898	C=0.91573	A=0.08427
gnomAD - Genomes	African	Sub	41922	C=0.74622	A=0.25378
gnomAD - Genomes	American	Sub	13636	C=0.76650	A=0.23350
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	C=0.9499	A=0.0501
gnomAD - Genomes	East Asian	Sub	3126	C=0.8506	A=0.1494
gnomAD - Genomes	Other	Sub	2144	C=0.8582	A=0.1418
14KJPN	JAPANESE	Study-wide	28258	C=0.75465	A=0.24535
Allele Frequency Aggregator	Total	Global	18890	C=0.88200	A=0.11800
Allele Frequency Aggregator	European	Sub	14286	C=0.91964	A=0.08036
Allele Frequency Aggregator	African	Sub	2946	C=0.7417	A=0.2583
Allele Frequency Aggregator	Other	Sub	692	C=0.851	A=0.149
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.720	A=0.280
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.849	A=0.151
Allele Frequency Aggregator	Asian	Sub	112	C=0.848	A=0.152
Allele Frequency Aggregator	South Asian	Sub	98	C=0.93	A=0.07
8.3KJPN	JAPANESE	Study-wide	16760	C=0.75686	A=0.24314
1000Genomes_30x	Global	Study-wide	6404	C=0.8051	A=0.1949
1000Genomes_30x	African	Sub	1786	C=0.6657	A=0.3343
1000Genomes_30x	Europe	Sub	1266	C=0.9321	A=0.0679
1000Genomes_30x	South Asian	Sub	1202	C=0.9151	A=0.0849
1000Genomes_30x	East Asian	Sub	1170	C=0.8436	A=0.1564
1000Genomes_30x	American	Sub	980	C=0.714	A=0.286
1000Genomes	Global	Study-wide	5008	C=0.8087	A=0.1913
1000Genomes	African	Sub	1322	C=0.6649	A=0.3351
1000Genomes	East Asian	Sub	1008	C=0.8323	A=0.1677
1000Genomes	Europe	Sub	1006	C=0.9304	A=0.0696
1000Genomes	South Asian	Sub	978	C=0.913	A=0.087
1000Genomes	American	Sub	694	C=0.725	A=0.275
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9257	A=0.0743
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9141	A=0.0859
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9102	A=0.0898
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8061	A=0.1939
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8029	A=0.1971
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.917	A=0.083
Northern Sweden	ACPOP	Study-wide	600	C=0.962	A=0.038
Qatari	Global	Study-wide	216	C=0.778	A=0.222
SGDP_PRJ	Global	Study-wide	216	C=0.356	A=0.644
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.874	A=0.126
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	A=0.05
Siberian	Global	Study-wide	10	C=0.5	A=0.5

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.71616246C>A
GRCh37.p13 chr 6	NC_000006.11:g.72325949C>A

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	C=	A
GRCh38.p14 chr 6	NC_000006.12:g.71616246=	NC_000006.12:g.71616246C>A
GRCh37.p13 chr 6	NC_000006.11:g.72325949=	NC_000006.11:g.72325949C>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#.

51 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss13053156	Dec 05, 2003 (119)
2	SC_SNP	ss18358489	Feb 28, 2004 (123)
3	SSAHASNP	ss35400044	May 24, 2005 (125)
4	COMPLETE_GENOMICS	ss163700089	Jul 04, 2010 (132)
5	GMI	ss278861575	May 04, 2012 (137)
6	1000GENOMES	ss333370798	May 09, 2011 (134)
7	TISHKOFF	ss559284819	Apr 25, 2013 (138)
8	SSMP	ss653241357	Apr 25, 2013 (138)
9	EVA-GONL	ss983079767	Aug 21, 2014 (142)
10	JMKIDD_LAB	ss1073721264	Aug 21, 2014 (142)
11	1000GENOMES	ss1320683474	Aug 21, 2014 (142)
12	DDI	ss1430776584	Apr 01, 2015 (144)
13	EVA_GENOME_DK	ss1581732594	Apr 01, 2015 (144)
14	EVA_DECODE	ss1592622032	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1615855223	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1658849256	Apr 01, 2015 (144)
17	HAMMER_LAB	ss1804497384	Sep 08, 2015 (146)
18	WEILL_CORNELL_DGM	ss1926336233	Feb 12, 2016 (147)
19	GENOMED	ss1970431533	Jul 19, 2016 (147)
20	JJLAB	ss2023810227	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2152002028	Dec 20, 2016 (150)
22	HUMAN_LONGEVITY	ss2285027128	Dec 20, 2016 (150)
23	GRF	ss2707610840	Nov 08, 2017 (151)
24	GNOMAD	ss2840540653	Nov 08, 2017 (151)
25	SWEGEN	ss2999306565	Nov 08, 2017 (151)
26	BIOINF_KMB_FNS_UNIBA	ss3025698352	Nov 08, 2017 (151)
27	CSHL	ss3347043395	Nov 08, 2017 (151)
28	EGCUT_WGS	ss3667175636	Jul 13, 2019 (153)
29	EVA_DECODE	ss3717488990	Jul 13, 2019 (153)
30	ACPOP	ss3733631076	Jul 13, 2019 (153)
31	EVA	ss3765186032	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3808334612	Jul 13, 2019 (153)
33	EVA	ss3829997214	Apr 26, 2020 (154)
34	SGDP_PRJ	ss3864872304	Apr 26, 2020 (154)
35	KRGDB	ss3911738927	Apr 26, 2020 (154)
36	KOGIC	ss3959314718	Apr 26, 2020 (154)
37	TOPMED	ss4707835199	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5178127149	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5268944737	Oct 17, 2022 (156)
40	EVA	ss5366490707	Oct 17, 2022 (156)
41	HUGCELL_USP	ss5466539640	Oct 17, 2022 (156)
42	EVA	ss5508553417	Oct 17, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5555131466	Oct 17, 2022 (156)
44	SANFORD_IMAGENETICS	ss5640685267	Oct 17, 2022 (156)
45	TOMMO_GENOMICS	ss5716493974	Oct 17, 2022 (156)
46	YY_MCH	ss5807603565	Oct 17, 2022 (156)
47	EVA	ss5842446318	Oct 17, 2022 (156)
48	EVA	ss5855412655	Oct 17, 2022 (156)
49	EVA	ss5884357903	Oct 17, 2022 (156)
50	EVA	ss5969179769	Oct 17, 2022 (156)
51	EVA	ss5980375663	Oct 17, 2022 (156)
52	1000Genomes	NC_000006.11 - 72325949	Oct 12, 2018 (152)
53	1000Genomes_30x	NC_000006.12 - 71616246	Oct 17, 2022 (156)
54	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 72325949	Oct 12, 2018 (152)
55	Genetic variation in the Estonian population	NC_000006.11 - 72325949	Oct 12, 2018 (152)
56	The Danish reference pan genome	NC_000006.11 - 72325949	Apr 26, 2020 (154)
57	gnomAD - Genomes	NC_000006.12 - 71616246	Apr 26, 2021 (155)
58	Genome of the Netherlands Release 5	NC_000006.11 - 72325949	Apr 26, 2020 (154)
59	KOREAN population from KRGDB	NC_000006.11 - 72325949	Apr 26, 2020 (154)
60	Korean Genome Project	NC_000006.12 - 71616246	Apr 26, 2020 (154)
61	Northern Sweden	NC_000006.11 - 72325949	Jul 13, 2019 (153)
62	Qatari	NC_000006.11 - 72325949	Apr 26, 2020 (154)
63	SGDP_PRJ	NC_000006.11 - 72325949	Apr 26, 2020 (154)
64	Siberian	NC_000006.11 - 72325949	Apr 26, 2020 (154)
65	8.3KJPN	NC_000006.11 - 72325949	Apr 26, 2021 (155)
66	14KJPN	NC_000006.12 - 71616246	Oct 17, 2022 (156)
67	TopMed	NC_000006.12 - 71616246	Apr 26, 2021 (155)
68	UK 10K study - Twins	NC_000006.11 - 72325949	Oct 12, 2018 (152)
69	A Vietnamese Genetic Variation Database	NC_000006.11 - 72325949	Jul 13, 2019 (153)
70	ALFA	NC_000006.12 - 71616246	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)
rs12183704	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss35400044	NC_000006.9:72382669:C:A	NC_000006.12:71616245:C:A	(self)
ss163700089, ss278861575, ss1592622032	NC_000006.10:72382669:C:A	NC_000006.12:71616245:C:A	(self)
32491757, 18102963, 12913884, 7897533, 8065116, 18916321, 6915941, 8378163, 16889284, 4518382, 36096456, 18102963, 4021515, ss333370798, ss559284819, ss653241357, ss983079767, ss1073721264, ss1320683474, ss1430776584, ss1581732594, ss1615855223, ss1658849256, ss1804497384, ss1926336233, ss1970431533, ss2023810227, ss2152002028, ss2707610840, ss2840540653, ss2999306565, ss3347043395, ss3667175636, ss3733631076, ss3765186032, ss3829997214, ss3864872304, ss3911738927, ss5178127149, ss5366490707, ss5508553417, ss5640685267, ss5842446318, ss5969179769, ss5980375663	NC_000006.11:72325948:C:A	NC_000006.12:71616245:C:A	(self)
42657401, 229324086, 15692719, 50331078, 545212757, 12316995002, ss2285027128, ss3025698352, ss3717488990, ss3808334612, ss3959314718, ss4707835199, ss5268944737, ss5466539640, ss5555131466, ss5716493974, ss5807603565, ss5855412655, ss5884357903	NC_000006.12:71616245:C:A	NC_000006.12:71616245:C:A	(self)
ss13053156, ss18358489	NT_007299.12:10146121:C:A	NC_000006.12:71616245:C: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 rs9442686

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

rs9442686