Name: rs9266303
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.

rs9266303

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:31361832 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.132967 (35195/264690, TOPMED)
T=0.131918 (18321/138882, GnomAD)
T=0.14485 (6061/41842, ALFA) (+ 15 more)
T=0.01692 (478/28258, 14KJPN)
T=0.01641 (275/16760, 8.3KJPN)
T=0.0971 (622/6404, 1000G_30x)
T=0.0972 (487/5008, 1000G)
T=0.1637 (631/3854, ALSPAC)
T=0.1535 (569/3708, TWINSUK)
T=0.0700 (205/2930, KOREAN)
T=0.127 (127/998, GoNL)
T=0.177 (106/598, NorthernSweden)
T=0.227 (49/216, Qatari)
G=0.46 (44/96, SGDP_PRJ)
T=0.12 (5/40, GENOME_DK)
T=0.11 (4/38, Ancient Sardinia)
G=0.50 (9/18, Siberian)
T=0.50 (9/18, 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	41934	G=0.85527	T=0.14473
European	Sub	36490	G=0.85193	T=0.14807
African	Sub	2970	G=0.8768	T=0.1232
African Others	Sub	114	G=0.912	T=0.088
African American	Sub	2856	G=0.8754	T=0.1246
Asian	Sub	160	G=0.906	T=0.094
East Asian	Sub	132	G=0.886	T=0.114
Other Asian	Sub	28	G=1.00	T=0.00
Latin American 1	Sub	154	G=0.857	T=0.143
Latin American 2	Sub	616	G=0.899	T=0.101
South Asian	Sub	98	G=0.94	T=0.06
Other	Sub	1446	G=0.8651	T=0.1349

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	G=0.867033	T=0.132967
gnomAD - Genomes	Global	Study-wide	138882	G=0.868082	T=0.131918
gnomAD - Genomes	European	Sub	75126	G=0.85564	T=0.14436
gnomAD - Genomes	African	Sub	41650	G=0.87753	T=0.12247
gnomAD - Genomes	American	Sub	13556	G=0.88986	T=0.11014
gnomAD - Genomes	Ashkenazi Jewish	Sub	3306	G=0.9077	T=0.0923
gnomAD - Genomes	East Asian	Sub	3114	G=0.9098	T=0.0902
gnomAD - Genomes	Other	Sub	2130	G=0.8610	T=0.1390
Allele Frequency Aggregator	Total	Global	41842	G=0.85515	T=0.14485
Allele Frequency Aggregator	European	Sub	36416	G=0.85180	T=0.14820
Allele Frequency Aggregator	African	Sub	2970	G=0.8768	T=0.1232
Allele Frequency Aggregator	Other	Sub	1428	G=0.8648	T=0.1352
Allele Frequency Aggregator	Latin American 2	Sub	616	G=0.899	T=0.101
Allele Frequency Aggregator	Asian	Sub	160	G=0.906	T=0.094
Allele Frequency Aggregator	Latin American 1	Sub	154	G=0.857	T=0.143
Allele Frequency Aggregator	South Asian	Sub	98	G=0.94	T=0.06
14KJPN	JAPANESE	Study-wide	28258	G=0.98308	T=0.01692
8.3KJPN	JAPANESE	Study-wide	16760	G=0.98359	T=0.01641
1000Genomes_30x	Global	Study-wide	6404	G=0.9029	T=0.0971
1000Genomes_30x	African	Sub	1786	G=0.8936	T=0.1064
1000Genomes_30x	Europe	Sub	1266	G=0.8420	T=0.1580
1000Genomes_30x	South Asian	Sub	1202	G=0.9509	T=0.0491
1000Genomes_30x	East Asian	Sub	1170	G=0.9256	T=0.0744
1000Genomes_30x	American	Sub	980	G=0.912	T=0.088
1000Genomes	Global	Study-wide	5008	G=0.9028	T=0.0972
1000Genomes	African	Sub	1322	G=0.8865	T=0.1135
1000Genomes	East Asian	Sub	1008	G=0.9236	T=0.0764
1000Genomes	Europe	Sub	1006	G=0.8459	T=0.1541
1000Genomes	South Asian	Sub	978	G=0.954	T=0.046
1000Genomes	American	Sub	694	G=0.914	T=0.086
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8363	T=0.1637
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8465	T=0.1535
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.9300	T=0.0700
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.873	T=0.127
Northern Sweden	ACPOP	Study-wide	598	G=0.823	T=0.177
Qatari	Global	Study-wide	216	G=0.773	T=0.227
SGDP_PRJ	Global	Study-wide	96	G=0.46	T=0.54
The Danish reference pan genome	Danish	Study-wide	40	G=0.88	T=0.12
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	38	G=0.89	T=0.11
Siberian	Global	Study-wide	18	G=0.50	T=0.50

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.31361832G>T
GRCh37.p13 chr 6	NC_000006.11:g.31329609G>T
HLA-B RefSeqGene	NG_023187.1:g.381C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2842190G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2842296G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2703816G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2709401G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2617528G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2623124G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2664071T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2663369T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2670444G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2676064G>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=	T
GRCh38.p14 chr 6	NC_000006.12:g.31361832=	NC_000006.12:g.31361832G>T
GRCh37.p13 chr 6	NC_000006.11:g.31329609=	NC_000006.11:g.31329609G>T
HLA-B RefSeqGene	NG_023187.1:g.381=	NG_023187.1:g.381C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2842190=	NT_113891.3:g.2842190G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2842296=	NT_113891.2:g.2842296G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2703816=	NT_167247.2:g.2703816G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2709401=	NT_167247.1:g.2709401G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2617528=	NT_167248.2:g.2617528G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2623124=	NT_167248.1:g.2623124G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2664071T>G	NT_167249.2:g.2664071=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2663369T>G	NT_167249.1:g.2663369=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2670444=	NT_167246.2:g.2670444G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2676064=	NT_167246.1:g.2676064G>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#.

54 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss12689847	Oct 31, 2003 (118)
2	SSAHASNP	ss35334594	May 24, 2005 (125)
3	ABI	ss42678105	Mar 14, 2006 (126)
4	HGSV	ss85609797	Dec 15, 2007 (130)
5	BCM-HGSC-SUB	ss207823161	Jul 04, 2010 (132)
6	1000GENOMES	ss222301855	Jul 14, 2010 (132)
7	1000GENOMES	ss233396773	Jul 14, 2010 (132)
8	GMI	ss278724467	May 04, 2012 (137)
9	ILLUMINA	ss536535933	Sep 08, 2015 (146)
10	TISHKOFF	ss559112048	Apr 25, 2013 (138)
11	EVA-GONL	ss982762427	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1073503472	Aug 21, 2014 (142)
13	1000GENOMES	ss1319551455	Aug 21, 2014 (142)
14	EVA_GENOME_DK	ss1581604603	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1615273553	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1658267586	Apr 01, 2015 (144)
17	HAMMER_LAB	ss1804356351	Sep 08, 2015 (146)
18	WEILL_CORNELL_DGM	ss1926014418	Feb 12, 2016 (147)
19	JJLAB	ss2023639565	Sep 14, 2016 (149)
20	USC_VALOUEV	ss2151805669	Dec 20, 2016 (150)
21	SYSTEMSBIOZJU	ss2626306631	Nov 08, 2017 (151)
22	GRF	ss2707399040	Nov 08, 2017 (151)
23	ILLUMINA	ss2711068997	Nov 08, 2017 (151)
24	AFFY	ss2985361014	Nov 08, 2017 (151)
25	AFFY	ss2985993502	Nov 08, 2017 (151)
26	SWEGEN	ss2998790989	Nov 08, 2017 (151)
27	BIOINF_KMB_FNS_UNIBA	ss3025606447	Nov 08, 2017 (151)
28	ILLUMINA	ss3629501587	Oct 12, 2018 (152)
29	URBANLAB	ss3648309112	Oct 12, 2018 (152)
30	ILLUMINA	ss3654127882	Oct 12, 2018 (152)
31	ACPOP	ss3733358085	Jul 13, 2019 (153)
32	EVA	ss3764818604	Jul 13, 2019 (153)
33	KHV_HUMAN_GENOMES	ss3807973916	Jul 13, 2019 (153)
34	EVA	ss3829830247	Apr 26, 2020 (154)
35	EVA	ss3838393026	Apr 26, 2020 (154)
36	EVA	ss3843835076	Apr 26, 2020 (154)
37	SGDP_PRJ	ss3864248019	Apr 26, 2020 (154)
38	KRGDB	ss3911023245	Apr 26, 2020 (154)
39	EVA	ss3985212771	Apr 26, 2021 (155)
40	VINODS	ss4025227973	Apr 26, 2021 (155)
41	VINODS	ss4025247613	Apr 26, 2021 (155)
42	TOPMED	ss4698352410	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5176828069	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5267930031	Oct 13, 2022 (156)
45	EVA	ss5364714547	Oct 13, 2022 (156)
46	EVA	ss5508425758	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5553584830	Oct 13, 2022 (156)
48	SANFORD_IMAGENETICS	ss5640084428	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5714680711	Oct 13, 2022 (156)
50	YY_MCH	ss5807303542	Oct 13, 2022 (156)
51	EVA	ss5842022396	Oct 13, 2022 (156)
52	EVA	ss5855281718	Oct 13, 2022 (156)
53	EVA	ss5883237723	Oct 13, 2022 (156)
54	EVA	ss5968586623	Oct 13, 2022 (156)
55	1000Genomes	NC_000006.11 - 31329609	Oct 12, 2018 (152)
56	1000Genomes_30x	NC_000006.12 - 31361832	Oct 13, 2022 (156)
57	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 31329609	Oct 12, 2018 (152)
58	The Danish reference pan genome	NC_000006.11 - 31329609	Apr 26, 2020 (154)
59	gnomAD - Genomes	NC_000006.12 - 31361832	Apr 26, 2021 (155)
60	Genome of the Netherlands Release 5	NC_000006.11 - 31329609	Apr 26, 2020 (154)
61	KOREAN population from KRGDB	NC_000006.11 - 31329609	Apr 26, 2020 (154)
62	Northern Sweden	NC_000006.11 - 31329609	Jul 13, 2019 (153)
63	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 31329609	Apr 26, 2021 (155)
64	Qatari	NC_000006.11 - 31329609	Apr 26, 2020 (154)
65	SGDP_PRJ	NC_000006.11 - 31329609	Apr 26, 2020 (154)
66	Siberian	NC_000006.11 - 31329609	Apr 26, 2020 (154)
67	8.3KJPN	NC_000006.11 - 31329609	Apr 26, 2021 (155)
68	14KJPN	NC_000006.12 - 31361832	Oct 13, 2022 (156)
69	TopMed	NC_000006.12 - 31361832	Apr 26, 2021 (155)
70	UK 10K study - Twins	NC_000006.11 - 31329609	Oct 12, 2018 (152)
71	ALFA	NC_000006.12 - 31361832	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)
rs60412001	May 26, 2008 (130)
rs114621172	Oct 26, 2010 (133)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss35334594, ss85609797	NC_000006.9:31437587:G:T	NC_000006.12:31361831:G:T	(self)
ss207823161, ss278724467	NC_000006.10:31437587:G:T	NC_000006.12:31361831:G:T	(self)
31318536, 17462584, 7769542, 7761449, 18200639, 6642950, 438698, 8056348, 16264999, 4322023, 34797376, 17462584, ss222301855, ss233396773, ss536535933, ss559112048, ss982762427, ss1073503472, ss1319551455, ss1581604603, ss1615273553, ss1658267586, ss1804356351, ss1926014418, ss2023639565, ss2151805669, ss2626306631, ss2707399040, ss2711068997, ss2985361014, ss2985993502, ss2998790989, ss3629501587, ss3654127882, ss3733358085, ss3764818604, ss3829830247, ss3838393026, ss3864248019, ss3911023245, ss3985212771, ss5176828069, ss5364714547, ss5508425758, ss5640084428, ss5842022396, ss5968586623	NC_000006.11:31329608:G:T	NC_000006.12:31361831:G:T	(self)
41110765, 221180061, 48517815, 535729968, 2373192219, ss3025606447, ss3648309112, ss3807973916, ss3843835076, ss4698352410, ss5267930031, ss5553584830, ss5714680711, ss5807303542, ss5855281718, ss5883237723	NC_000006.12:31361831:G:T	NC_000006.12:31361831:G:T	(self)
ss12689847, ss42678105	NT_007592.15:31269608:G:T	NC_000006.12:31361831:G:T	(self)
ss4025227973	NT_167246.2:2670443:G:T	NC_000006.12:31361831:G:T	(self)
ss4025247613	NT_167247.2:2703815:G:T	NC_000006.12:31361831: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 rs9266303

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

rs9266303