Name: rs9265585
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.

rs9265585

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:31331187 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.346553 (91729/264690, TOPMED)
C=0.339059 (47433/139896, GnomAD)
G=0.41641 (11767/28258, 14KJPN) (+ 14 more)
C=0.34891 (6591/18890, ALFA)
G=0.41492 (6954/16760, 8.3KJPN)
C=0.3649 (2337/6404, 1000G_30x)
C=0.3762 (1884/5008, 1000G)
C=0.3957 (1525/3854, ALSPAC)
C=0.3700 (1372/3708, TWINSUK)
G=0.4870 (1427/2930, KOREAN)
C=0.333 (332/998, GoNL)
C=0.405 (243/600, NorthernSweden)
C=0.258 (111/430, SGDP_PRJ)
C=0.333 (72/216, Qatari)
G=0.407 (88/216, Vietnamese)
C=0.22 (10/46, Siberian)
C=0.33 (13/40, GENOME_DK)

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=0.34891	G=0.65109
European	Sub	14286	C=0.35846	G=0.64154
African	Sub	2946	C=0.2814	G=0.7186
African Others	Sub	114	C=0.211	G=0.789
African American	Sub	2832	C=0.2843	G=0.7157
Asian	Sub	112	C=0.357	G=0.643
East Asian	Sub	86	C=0.37	G=0.63
Other Asian	Sub	26	C=0.31	G=0.69
Latin American 1	Sub	146	C=0.356	G=0.644
Latin American 2	Sub	610	C=0.423	G=0.577
South Asian	Sub	98	C=0.33	G=0.67
Other	Sub	692	C=0.374	G=0.626

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=0.346553	G=0.653447
gnomAD - Genomes	Global	Study-wide	139896	C=0.339059	G=0.660941
gnomAD - Genomes	European	Sub	75784	C=0.35917	G=0.64083
gnomAD - Genomes	African	Sub	41902	C=0.27755	G=0.72245
gnomAD - Genomes	American	Sub	13628	C=0.40395	G=0.59605
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.2592	G=0.7408
gnomAD - Genomes	East Asian	Sub	3114	C=0.4692	G=0.5308
gnomAD - Genomes	Other	Sub	2146	C=0.3527	G=0.6473
14KJPN	JAPANESE	Study-wide	28258	C=0.58359	G=0.41641
Allele Frequency Aggregator	Total	Global	18890	C=0.34891	G=0.65109
Allele Frequency Aggregator	European	Sub	14286	C=0.35846	G=0.64154
Allele Frequency Aggregator	African	Sub	2946	C=0.2814	G=0.7186
Allele Frequency Aggregator	Other	Sub	692	C=0.374	G=0.626
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.423	G=0.577
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.356	G=0.644
Allele Frequency Aggregator	Asian	Sub	112	C=0.357	G=0.643
Allele Frequency Aggregator	South Asian	Sub	98	C=0.33	G=0.67
8.3KJPN	JAPANESE	Study-wide	16760	C=0.58508	G=0.41492
1000Genomes_30x	Global	Study-wide	6404	C=0.3649	G=0.6351
1000Genomes_30x	African	Sub	1786	C=0.2357	G=0.7643
1000Genomes_30x	Europe	Sub	1266	C=0.3586	G=0.6414
1000Genomes_30x	South Asian	Sub	1202	C=0.3544	G=0.6456
1000Genomes_30x	East Asian	Sub	1170	C=0.4974	G=0.5026
1000Genomes_30x	American	Sub	980	C=0.463	G=0.537
1000Genomes	Global	Study-wide	5008	C=0.3762	G=0.6238
1000Genomes	African	Sub	1322	C=0.2413	G=0.7587
1000Genomes	East Asian	Sub	1008	C=0.5099	G=0.4901
1000Genomes	Europe	Sub	1006	C=0.3718	G=0.6282
1000Genomes	South Asian	Sub	978	C=0.356	G=0.644
1000Genomes	American	Sub	694	C=0.474	G=0.526
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3957	G=0.6043
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3700	G=0.6300
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5130	G=0.4870
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.333	G=0.667
Northern Sweden	ACPOP	Study-wide	600	C=0.405	G=0.595
SGDP_PRJ	Global	Study-wide	430	C=0.258	G=0.742
Qatari	Global	Study-wide	216	C=0.333	G=0.667
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.593	G=0.407
Siberian	Global	Study-wide	46	C=0.22	G=0.78
The Danish reference pan genome	Danish	Study-wide	40	C=0.33	G=0.68

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.31331187C>G
GRCh37.p13 chr 6	NC_000006.11:g.31298964C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2811520G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2811626G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2586844C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2592440C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2578674G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2584259G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2633385C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2632683C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2639752G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2645372G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2673307G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2678892G>C

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=	G
GRCh38.p14 chr 6	NC_000006.12:g.31331187=	NC_000006.12:g.31331187C>G
GRCh37.p13 chr 6	NC_000006.11:g.31298964=	NC_000006.11:g.31298964C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2811520G>C	NT_113891.3:g.2811520=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2811626G>C	NT_113891.2:g.2811626=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2586844=	NT_167248.2:g.2586844C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2592440=	NT_167248.1:g.2592440C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2578674G>C	NT_167245.2:g.2578674=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2584259G>C	NT_167245.1:g.2584259=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2633385=	NT_167249.2:g.2633385C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2632683=	NT_167249.1:g.2632683C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2639752G>C	NT_167246.2:g.2639752=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2645372G>C	NT_167246.1:g.2645372=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2673307G>C	NT_167247.2:g.2673307=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2678892G>C	NT_167247.1:g.2678892=

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#.

63 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss12689066	Oct 31, 2003 (118)
2	HUMANGENOME_JCVI	ss98378999	Feb 05, 2009 (130)
3	BGI	ss104295962	Dec 01, 2009 (137)
4	1000GENOMES	ss109894868	Feb 13, 2009 (137)
5	1000GENOMES	ss114133977	Jan 25, 2009 (137)
6	ILLUMINA-UK	ss116391394	Feb 14, 2009 (130)
7	GMI	ss156735482	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss162192554	Jul 04, 2010 (132)
9	COMPLETE_GENOMICS	ss163338281	Jul 04, 2010 (132)
10	BUSHMAN	ss201617363	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss207577530	Jul 04, 2010 (132)
12	1000GENOMES	ss222300446	Jul 14, 2010 (137)
13	1000GENOMES	ss233395211	Jul 14, 2010 (137)
14	1000GENOMES	ss240466456	Jul 15, 2010 (137)
15	BL	ss254179340	May 09, 2011 (137)
16	GMI	ss278723275	May 04, 2012 (137)
17	GMI	ss285372619	Apr 25, 2013 (138)
18	PJP	ss293824223	May 09, 2011 (137)
19	ILLUMINA	ss535590120	Sep 08, 2015 (146)
20	TISHKOFF	ss559111244	Apr 25, 2013 (138)
21	SSMP	ss653030965	Apr 25, 2013 (138)
22	EVA-GONL	ss982760816	Aug 21, 2014 (142)
23	1000GENOMES	ss1319548990	Aug 21, 2014 (142)
24	EVA_GENOME_DK	ss1581603816	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1615272743	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1658266776	Apr 01, 2015 (144)
27	HAMMER_LAB	ss1804355117	Sep 08, 2015 (146)
28	WEILL_CORNELL_DGM	ss1926012470	Feb 12, 2016 (147)
29	GENOMED	ss1970355230	Jul 19, 2016 (147)
30	JJLAB	ss2023638035	Sep 14, 2016 (149)
31	USC_VALOUEV	ss2151803877	Dec 20, 2016 (150)
32	HUMAN_LONGEVITY	ss2282935774	Dec 20, 2016 (150)
33	GRF	ss2707397137	Nov 08, 2017 (151)
34	SWEGEN	ss2998788618	Nov 08, 2017 (151)
35	BIOINF_KMB_FNS_UNIBA	ss3025605244	Nov 08, 2017 (151)
36	ILLUMINA	ss3629501097	Oct 12, 2018 (152)
37	URBANLAB	ss3648308027	Oct 12, 2018 (152)
38	EVA_DECODE	ss3716901126	Jul 13, 2019 (153)
39	ACPOP	ss3733356101	Jul 13, 2019 (153)
40	EVA	ss3764816940	Jul 13, 2019 (153)
41	PACBIO	ss3785422868	Jul 13, 2019 (153)
42	PACBIO	ss3790782404	Jul 13, 2019 (153)
43	PACBIO	ss3795659845	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3807971859	Jul 13, 2019 (153)
45	EVA	ss3829828572	Apr 26, 2020 (154)
46	EVA	ss3838392078	Apr 26, 2020 (154)
47	EVA	ss3843833925	Apr 26, 2020 (154)
48	SGDP_PRJ	ss3864245502	Apr 26, 2020 (154)
49	KRGDB	ss3911020933	Apr 26, 2020 (154)
50	VINODS	ss4025208495	Apr 26, 2021 (155)
51	VINODS	ss4025246886	Apr 26, 2021 (155)
52	TOPMED	ss4698346830	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5176825052	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5267927720	Oct 13, 2022 (156)
55	EVA	ss5364712219	Oct 13, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5553582124	Oct 13, 2022 (156)
57	SANFORD_IMAGENETICS	ss5640081982	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5714677067	Oct 13, 2022 (156)
59	YY_MCH	ss5807301435	Oct 13, 2022 (156)
60	EVA	ss5842020451	Oct 13, 2022 (156)
61	EVA	ss5855280555	Oct 13, 2022 (156)
62	EVA	ss5883235475	Oct 13, 2022 (156)
63	EVA	ss5968584745	Oct 13, 2022 (156)
64	1000Genomes	NC_000006.11 - 31298964	Oct 12, 2018 (152)
65	1000Genomes_30x	NC_000006.12 - 31331187	Oct 13, 2022 (156)
66	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 31298964	Oct 12, 2018 (152)
67	The Danish reference pan genome	NC_000006.11 - 31298964	Apr 26, 2020 (154)
68	gnomAD - Genomes	NC_000006.12 - 31331187	Apr 26, 2021 (155)
69	Genome of the Netherlands Release 5	NC_000006.11 - 31298964	Apr 26, 2020 (154)
70	KOREAN population from KRGDB	NC_000006.11 - 31298964	Apr 26, 2020 (154)
71	Northern Sweden	NC_000006.11 - 31298964	Jul 13, 2019 (153)
72	Qatari	NC_000006.11 - 31298964	Apr 26, 2020 (154)
73	SGDP_PRJ	NC_000006.11 - 31298964	Apr 26, 2020 (154)
74	Siberian	NC_000006.11 - 31298964	Apr 26, 2020 (154)
75	8.3KJPN	NC_000006.11 - 31298964	Apr 26, 2021 (155)
76	14KJPN	NC_000006.12 - 31331187	Oct 13, 2022 (156)
77	TopMed	NC_000006.12 - 31331187	Apr 26, 2021 (155)
78	UK 10K study - Twins	NC_000006.11 - 31298964	Oct 12, 2018 (152)
79	A Vietnamese Genetic Variation Database	NC_000006.11 - 31298964	Jul 13, 2019 (153)
80	ALFA	NC_000006.12 - 31331187	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)
rs77530572	May 04, 2012 (137)
rs116292105	May 04, 2012 (137)
rs117152811	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss109894868, ss114133977, ss116391394, ss162192554, ss163338281, ss201617363, ss207577530, ss254179340, ss278723275, ss285372619, ss293824223	NC_000006.10:31406942:C:G	NC_000006.12:31331186:C:G	(self)
31316027, 17461692, 7768755, 7759963, 18198327, 6640966, 8054400, 16262482, 4320231, 34794359, 17461692, 3870994, ss222300446, ss233395211, ss240466456, ss535590120, ss559111244, ss653030965, ss982760816, ss1319548990, ss1581603816, ss1615272743, ss1658266776, ss1804355117, ss1926012470, ss1970355230, ss2023638035, ss2151803877, ss2707397137, ss2998788618, ss3629501097, ss3733356101, ss3764816940, ss3785422868, ss3790782404, ss3795659845, ss3829828572, ss3838392078, ss3864245502, ss3911020933, ss5176825052, ss5364712219, ss5640081982, ss5842020451, ss5968584745	NC_000006.11:31298963:C:G	NC_000006.12:31331186:C:G	(self)
41108059, 221173142, 48514171, 535724388, 6267041139, ss2282935774, ss3025605244, ss3648308027, ss3716901126, ss3807971859, ss3843833925, ss4698346830, ss5267927720, ss5553582124, ss5714677067, ss5807301435, ss5855280555, ss5883235475	NC_000006.12:31331186:C:G	NC_000006.12:31331186:C:G	(self)
ss12689066, ss98378999, ss104295962, ss156735482	NT_007592.15:31238963:C:G	NC_000006.12:31331186:C:G	(self)
ss4025208495	NT_167245.2:2578673:G:G	NC_000006.12:31331186:C:G	(self)
ss4025246886	NT_167247.2:2673306:G:G	NC_000006.12:31331186:C:G	(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 rs9265585

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

rs9265585