Name: rs9272181
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.

rs9272181

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32633786 (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=0.238709 (32792/137372, GnomAD)
A=0.10151 (2868/28254, 14KJPN)
A=0.09984 (1673/16756, 8.3KJPN) (+ 10 more)
A=0.25687 (3047/11862, ALFA)
A=0.1980 (1268/6404, 1000G_30x)
A=0.1909 (956/5008, 1000G)
A=0.1229 (360/2930, KOREAN)
A=0.073 (73/998, GoNL)
A=0.176 (105/598, NorthernSweden)
G=0.358 (91/254, SGDP_PRJ)
A=0.241 (52/216, Qatari)
A=0.25 (10/40, GENOME_DK)
G=0.43 (6/14, 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	11862	G=0.74313	A=0.25687
European	Sub	7618	G=0.7216	A=0.2784
African	Sub	2816	G=0.7962	A=0.2038
African Others	Sub	108	G=0.833	A=0.167
African American	Sub	2708	G=0.7947	A=0.2053
Asian	Sub	108	G=0.815	A=0.185
East Asian	Sub	84	G=0.77	A=0.23
Other Asian	Sub	24	G=0.96	A=0.04
Latin American 1	Sub	146	G=0.740	A=0.260
Latin American 2	Sub	610	G=0.733	A=0.267
South Asian	Sub	94	G=0.81	A=0.19
Other	Sub	470	G=0.760	A=0.240

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
gnomAD - Genomes	Global	Study-wide	137372	G=0.761291	A=0.238709
gnomAD - Genomes	European	Sub	74472	G=0.74699	A=0.25301
gnomAD - Genomes	African	Sub	41238	G=0.79371	A=0.20629
gnomAD - Genomes	American	Sub	13188	G=0.74280	A=0.25720
gnomAD - Genomes	Ashkenazi Jewish	Sub	3284	G=0.6882	A=0.3118
gnomAD - Genomes	East Asian	Sub	3102	G=0.8330	A=0.1670
gnomAD - Genomes	Other	Sub	2088	G=0.7562	A=0.2438
14KJPN	JAPANESE	Study-wide	28254	G=0.89849	A=0.10151
8.3KJPN	JAPANESE	Study-wide	16756	G=0.90016	A=0.09984
Allele Frequency Aggregator	Total	Global	11862	G=0.74313	A=0.25687
Allele Frequency Aggregator	European	Sub	7618	G=0.7216	A=0.2784
Allele Frequency Aggregator	African	Sub	2816	G=0.7962	A=0.2038
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.733	A=0.267
Allele Frequency Aggregator	Other	Sub	470	G=0.760	A=0.240
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.740	A=0.260
Allele Frequency Aggregator	Asian	Sub	108	G=0.815	A=0.185
Allele Frequency Aggregator	South Asian	Sub	94	G=0.81	A=0.19
1000Genomes_30x	Global	Study-wide	6404	G=0.8020	A=0.1980
1000Genomes_30x	African	Sub	1786	G=0.7755	A=0.2245
1000Genomes_30x	Europe	Sub	1266	G=0.7615	A=0.2385
1000Genomes_30x	South Asian	Sub	1202	G=0.8594	A=0.1406
1000Genomes_30x	East Asian	Sub	1170	G=0.8744	A=0.1256
1000Genomes_30x	American	Sub	980	G=0.746	A=0.254
1000Genomes	Global	Study-wide	5008	G=0.8091	A=0.1909
1000Genomes	African	Sub	1322	G=0.7769	A=0.2231
1000Genomes	East Asian	Sub	1008	G=0.8839	A=0.1161
1000Genomes	Europe	Sub	1006	G=0.7584	A=0.2416
1000Genomes	South Asian	Sub	978	G=0.863	A=0.137
1000Genomes	American	Sub	694	G=0.759	A=0.241
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8771	A=0.1229
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.927	A=0.073
Northern Sweden	ACPOP	Study-wide	598	G=0.824	A=0.176
SGDP_PRJ	Global	Study-wide	254	G=0.358	A=0.642
Qatari	Global	Study-wide	216	G=0.759	A=0.241
The Danish reference pan genome	Danish	Study-wide	40	G=0.75	A=0.25
Siberian	Global	Study-wide	14	G=0.43	A=0.57

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.32633786G>A
GRCh37.p13 chr 6	NC_000006.11:g.32601563G>A
HLA-DQA1 RefSeqGene	NG_032876.1:g.1381G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4051833A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4051939A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3832802A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3838398A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3877699G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3883284G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4035710G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4035008G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4052097G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4057717G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3934841G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3940426G>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	G=	A
GRCh38.p14 chr 6	NC_000006.12:g.32633786=	NC_000006.12:g.32633786G>A
GRCh37.p13 chr 6	NC_000006.11:g.32601563=	NC_000006.11:g.32601563G>A
HLA-DQA1 RefSeqGene	NG_032876.1:g.1381=	NG_032876.1:g.1381G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4051833A>G	NT_113891.3:g.4051833=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4051939A>G	NT_113891.2:g.4051939=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3832802A>G	NT_167248.2:g.3832802=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3838398A>G	NT_167248.1:g.3838398=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3877699=	NT_167245.2:g.3877699G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3883284=	NT_167245.1:g.3883284G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4035710=	NT_167249.2:g.4035710G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4035008=	NT_167249.1:g.4035008G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4052097=	NT_167246.2:g.4052097G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4057717=	NT_167246.1:g.4057717G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3934841=	NT_167247.2:g.3934841G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3940426=	NT_167247.1:g.3940426G>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#.

49 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss12697148	Oct 31, 2003 (118)
2	1000GENOMES	ss109916866	Feb 13, 2009 (137)
3	ILLUMINA-UK	ss116402066	Feb 14, 2009 (130)
4	GMI	ss156764384	Dec 01, 2009 (137)
5	1000GENOMES	ss211816900	Jul 14, 2010 (137)
6	1000GENOMES	ss222314605	Jul 14, 2010 (137)
7	1000GENOMES	ss233411797	Jul 14, 2010 (137)
8	1000GENOMES	ss240479407	Jul 15, 2010 (137)
9	BL	ss254209068	May 09, 2011 (137)
10	GMI	ss278738460	May 04, 2012 (137)
11	EVA-GONL	ss982782351	Aug 21, 2014 (142)
12	1000GENOMES	ss1319592183	Aug 21, 2014 (142)
13	EVA_GENOME_DK	ss1581613180	Apr 01, 2015 (144)
14	WEILL_CORNELL_DGM	ss1926038926	Feb 12, 2016 (147)
15	ILLUMINA	ss1958893766	Feb 12, 2016 (147)
16	GENOMED	ss1970362653	Jul 19, 2016 (147)
17	JJLAB	ss2023653072	Sep 14, 2016 (149)
18	USC_VALOUEV	ss2151827685	Dec 20, 2016 (150)
19	HUMAN_LONGEVITY	ss2282989353	Dec 20, 2016 (150)
20	GRF	ss2707422071	Nov 08, 2017 (151)
21	SWEGEN	ss2998833949	Nov 08, 2017 (151)
22	ILLUMINA	ss3022604604	Nov 08, 2017 (151)
23	ILLUMINA	ss3653118259	Oct 12, 2018 (152)
24	EVA_DECODE	ss3716933863	Jul 13, 2019 (153)
25	ACPOP	ss3733376660	Jul 13, 2019 (153)
26	EVA	ss3764842078	Jul 13, 2019 (153)
27	KHV_HUMAN_GENOMES	ss3807997427	Jul 13, 2019 (153)
28	EVA	ss3829845840	Apr 26, 2020 (154)
29	EVA	ss3838400287	Apr 26, 2020 (154)
30	EVA	ss3843843386	Apr 26, 2020 (154)
31	SGDP_PRJ	ss3864295382	Apr 26, 2020 (154)
32	KRGDB	ss3911073345	Apr 26, 2020 (154)
33	VINODS	ss4025193797	Apr 26, 2021 (155)
34	VINODS	ss4025250669	Apr 26, 2021 (155)
35	VINODS	ss4025271630	Apr 26, 2021 (155)
36	VINODS	ss4025292511	Apr 26, 2021 (155)
37	GNOMAD	ss4139490057	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5176902221	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5267968789	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5465692548	Oct 17, 2022 (156)
41	EVA	ss5508436205	Oct 17, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5553641766	Oct 17, 2022 (156)
43	SANFORD_IMAGENETICS	ss5640124284	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5714771446	Oct 17, 2022 (156)
45	YY_MCH	ss5807337723	Oct 17, 2022 (156)
46	EVA	ss5842046671	Oct 17, 2022 (156)
47	EVA	ss5855292932	Oct 17, 2022 (156)
48	EVA	ss5883272199	Oct 17, 2022 (156)
49	EVA	ss5968615250	Oct 17, 2022 (156)
50	1000Genomes	NC_000006.11 - 32601563	Oct 12, 2018 (152)
51	1000Genomes_30x	NC_000006.12 - 32633786	Oct 17, 2022 (156)
52	The Danish reference pan genome	NC_000006.11 - 32601563	Apr 26, 2020 (154)
53	gnomAD - Genomes	NC_000006.12 - 32633786	Apr 26, 2021 (155)
54	Genome of the Netherlands Release 5	NC_000006.11 - 32601563	Apr 26, 2020 (154)
55	KOREAN population from KRGDB	NC_000006.11 - 32601563	Apr 26, 2020 (154)
56	Northern Sweden	NC_000006.11 - 32601563	Jul 13, 2019 (153)
57	Qatari	NC_000006.11 - 32601563	Apr 26, 2020 (154)
58	SGDP_PRJ	NC_000006.11 - 32601563	Apr 26, 2020 (154)
59	Siberian	NC_000006.11 - 32601563	Apr 26, 2020 (154)
60	8.3KJPN	NC_000006.11 - 32601563	Apr 26, 2021 (155)
61	14KJPN	NC_000006.12 - 32633786	Oct 17, 2022 (156)
62	ALFA	NC_000006.12 - 32633786	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)
rs78036710	May 04, 2012 (137)
rs116770912	May 04, 2012 (137)
rs118114685	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss12697148, ss109916866, ss116402066, ss211816900, ss254209068, ss278738460	NC_000006.10:32709540:G:A	NC_000006.12:32633785:G:A	(self)
31360922, 7778119, 7777433, 18250739, 6661525, 8080856, 16312362, 4344039, 34871528, ss222314605, ss233411797, ss240479407, ss982782351, ss1319592183, ss1581613180, ss1926038926, ss1958893766, ss1970362653, ss2023653072, ss2151827685, ss2707422071, ss2998833949, ss3022604604, ss3653118259, ss3733376660, ss3764842078, ss3829845840, ss3838400287, ss3864295382, ss3911073345, ss5176902221, ss5508436205, ss5640124284, ss5842046671, ss5968615250	NC_000006.11:32601562:G:A	NC_000006.12:32633785:G:A	(self)
41167701, 221417028, 48608550, 16755810046, ss2282989353, ss3716933863, ss3807997427, ss3843843386, ss4139490057, ss5267968789, ss5465692548, ss5553641766, ss5714771446, ss5807337723, ss5855292932, ss5883272199	NC_000006.12:32633785:G:A	NC_000006.12:32633785:G:A	(self)
ss156764384	NT_007592.15:32541562:G:A	NC_000006.12:32633785:G:A	(self)
ss4025193797	NT_113891.3:4051832:A:A	NC_000006.12:32633785:G:A	(self)
ss4025250669	NT_167247.2:3934840:G:A	NC_000006.12:32633785:G:A	(self)
ss4025271630	NT_167248.2:3832801:A:A	NC_000006.12:32633785:G:A	(self)
ss4025292511	NT_167249.2:4035709:G:A	NC_000006.12:32633785: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 rs9272181

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

rs9272181