Name: rs9274736
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.

rs9274736

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32670128 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.498511 (131951/264690, TOPMED)
C=0.474397 (65871/138852, GnomAD)
T=0.27192 (7684/28258, 14KJPN) (+ 8 more)
T=0.27372 (4587/16758, 8.3KJPN)
C=0.48449 (5747/11862, ALFA)
T=0.4379 (2804/6404, 1000G_30x)
T=0.4762 (2385/5008, 1000G)
T=0.3505 (1027/2930, KOREAN)
C=0.467 (280/600, NorthernSweden)
T=0.278 (120/432, SGDP_PRJ)
T=0.33 (6/18, 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	11862	T=0.51551	C=0.48449
European	Sub	7618	T=0.5133	C=0.4867
African	Sub	2816	T=0.5749	C=0.4251
African Others	Sub	108	T=0.565	C=0.435
African American	Sub	2708	T=0.5753	C=0.4247
Asian	Sub	108	T=0.380	C=0.620
East Asian	Sub	84	T=0.37	C=0.63
Other Asian	Sub	24	T=0.42	C=0.58
Latin American 1	Sub	146	T=0.527	C=0.473
Latin American 2	Sub	610	T=0.338	C=0.662
South Asian	Sub	94	T=0.40	C=0.60
Other	Sub	470	T=0.477	C=0.523

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	T=0.498511	C=0.501489
gnomAD - Genomes	Global	Study-wide	138852	T=0.525603	C=0.474397
gnomAD - Genomes	European	Sub	75196	T=0.54068	C=0.45932
gnomAD - Genomes	African	Sub	41668	T=0.56319	C=0.43681
gnomAD - Genomes	American	Sub	13502	T=0.41305	C=0.58695
gnomAD - Genomes	Ashkenazi Jewish	Sub	3300	T=0.3906	C=0.6094
gnomAD - Genomes	East Asian	Sub	3072	T=0.3161	C=0.6839
gnomAD - Genomes	Other	Sub	2114	T=0.4825	C=0.5175
14KJPN	JAPANESE	Study-wide	28258	T=0.27192	C=0.72808
8.3KJPN	JAPANESE	Study-wide	16758	T=0.27372	C=0.72628
Allele Frequency Aggregator	Total	Global	11862	T=0.51551	C=0.48449
Allele Frequency Aggregator	European	Sub	7618	T=0.5133	C=0.4867
Allele Frequency Aggregator	African	Sub	2816	T=0.5749	C=0.4251
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.338	C=0.662
Allele Frequency Aggregator	Other	Sub	470	T=0.477	C=0.523
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.527	C=0.473
Allele Frequency Aggregator	Asian	Sub	108	T=0.380	C=0.620
Allele Frequency Aggregator	South Asian	Sub	94	T=0.40	C=0.60
1000Genomes_30x	Global	Study-wide	6404	T=0.4379	C=0.5621
1000Genomes_30x	African	Sub	1786	T=0.5269	C=0.4731
1000Genomes_30x	Europe	Sub	1266	T=0.5008	C=0.4992
1000Genomes_30x	South Asian	Sub	1202	T=0.3960	C=0.6040
1000Genomes_30x	East Asian	Sub	1170	T=0.3504	C=0.6496
1000Genomes_30x	American	Sub	980	T=0.350	C=0.650
1000Genomes	Global	Study-wide	5008	T=0.4762	C=0.5238
1000Genomes	African	Sub	1322	T=0.5658	C=0.4342
1000Genomes	East Asian	Sub	1008	T=0.4067	C=0.5933
1000Genomes	Europe	Sub	1006	T=0.5427	C=0.4573
1000Genomes	South Asian	Sub	978	T=0.426	C=0.574
1000Genomes	American	Sub	694	T=0.380	C=0.620
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3505	C=0.6495
Northern Sweden	ACPOP	Study-wide	600	T=0.533	C=0.467
SGDP_PRJ	Global	Study-wide	432	T=0.278	C=0.722
Siberian	Global	Study-wide	18	T=0.33	C=0.67

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.32670128T>C
GRCh37.p13 chr 6	NC_000006.11:g.32637905T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4083453T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4083559T>C
HLA-DQB1 RefSeqGene	NG_029922.1:g.1553A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3864417T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3870013T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3911980C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3917565C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4068383C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4067681C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4087955C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4093575C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3966626C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3972211C>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	T=	C
GRCh38.p14 chr 6	NC_000006.12:g.32670128=	NC_000006.12:g.32670128T>C
GRCh37.p13 chr 6	NC_000006.11:g.32637905=	NC_000006.11:g.32637905T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4083453=	NT_113891.3:g.4083453T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4083559=	NT_113891.2:g.4083559T>C
HLA-DQB1 RefSeqGene	NG_029922.1:g.1553=	NG_029922.1:g.1553A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3864417=	NT_167248.2:g.3864417T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3870013=	NT_167248.1:g.3870013T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3911980C>T	NT_167245.2:g.3911980=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3917565C>T	NT_167245.1:g.3917565=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4068383C>T	NT_167249.2:g.4068383=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4067681C>T	NT_167249.1:g.4067681=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4087955C>T	NT_167246.2:g.4087955=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4093575C>T	NT_167246.1:g.4093575=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3966626C>T	NT_167247.2:g.3966626=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3972211C>T	NT_167247.1:g.3972211=

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#.

32 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss12699706	Oct 31, 2003 (118)
2	UWGC	ss50396003	Mar 14, 2006 (126)
3	GMI	ss278740019	May 04, 2012 (137)
4	TISHKOFF	ss559120067	Apr 25, 2013 (138)
5	1000GENOMES	ss1319595505	Aug 21, 2014 (142)
6	JJLAB	ss2023655218	Sep 14, 2016 (149)
7	USC_VALOUEV	ss2151830661	Dec 20, 2016 (150)
8	SYSTEMSBIOZJU	ss2626315285	Nov 08, 2017 (151)
9	GRF	ss2707425106	Nov 08, 2017 (151)
10	SWEGEN	ss2998838357	Nov 08, 2017 (151)
11	BIOINF_KMB_FNS_UNIBA	ss3025618214	Nov 08, 2017 (151)
12	URBANLAB	ss3648320440	Oct 12, 2018 (152)
13	EVA_DECODE	ss3716937007	Jul 13, 2019 (153)
14	ACPOP	ss3733379713	Jul 13, 2019 (153)
15	PACBIO	ss3785436040	Jul 13, 2019 (153)
16	PACBIO	ss3795672042	Jul 13, 2019 (153)
17	KHV_HUMAN_GENOMES	ss3808000614	Jul 13, 2019 (153)
18	EVA	ss3829848620	Apr 26, 2020 (154)
19	EVA	ss3838401600	Apr 26, 2020 (154)
20	SGDP_PRJ	ss3864299633	Apr 26, 2020 (154)
21	KRGDB	ss3911077606	Apr 26, 2020 (154)
22	VINODS	ss4025251584	Apr 26, 2021 (155)
23	GNOMAD	ss4139494973	Apr 26, 2021 (155)
24	TOPMED	ss4698579922	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5176907694	Apr 26, 2021 (155)
26	1000G_HIGH_COVERAGE	ss5267970949	Oct 17, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5553645575	Oct 17, 2022 (156)
28	SANFORD_IMAGENETICS	ss5640128292	Oct 17, 2022 (156)
29	TOMMO_GENOMICS	ss5714777534	Oct 17, 2022 (156)
30	YY_MCH	ss5807341643	Oct 17, 2022 (156)
31	EVA	ss5855294564	Oct 17, 2022 (156)
32	EVA	ss5883275737	Oct 17, 2022 (156)
33	1000Genomes	NC_000006.11 - 32637905	Oct 12, 2018 (152)
34	1000Genomes_30x	NC_000006.12 - 32670128	Oct 17, 2022 (156)
35	gnomAD - Genomes	NC_000006.12 - 32670128	Apr 26, 2021 (155)
36	KOREAN population from KRGDB	NC_000006.11 - 32637905	Apr 26, 2020 (154)
37	Northern Sweden	NC_000006.11 - 32637905	Jul 13, 2019 (153)
38	SGDP_PRJ	NC_000006.11 - 32637905	Apr 26, 2020 (154)
39	Siberian	NC_000006.11 - 32637905	Apr 26, 2020 (154)
40	8.3KJPN	NC_000006.11 - 32637905	Apr 26, 2021 (155)
41	14KJPN	NC_000006.12 - 32670128	Oct 17, 2022 (156)
42	TopMed	NC_000006.12 - 32670128	Apr 26, 2021 (155)
43	ALFA	NC_000006.12 - 32670128	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)
rs35141444	May 23, 2006 (127)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss12699706, ss278740019	NC_000006.10:32745882:T:C	NC_000006.12:32670127:T:C	(self)
31364291, 18255000, 6664578, 16316613, 4347015, 34877001, ss559120067, ss1319595505, ss2023655218, ss2151830661, ss2626315285, ss2707425106, ss2998838357, ss3733379713, ss3785436040, ss3795672042, ss3829848620, ss3838401600, ss3864299633, ss3911077606, ss5176907694, ss5640128292	NC_000006.11:32637904:T:C	NC_000006.12:32670127:T:C	(self)
41171510, 221425296, 48614638, 535957480, 11176376795, ss3025618214, ss3648320440, ss3716937007, ss3808000614, ss4139494973, ss4698579922, ss5267970949, ss5553645575, ss5714777534, ss5807341643, ss5855294564, ss5883275737	NC_000006.12:32670127:T:C	NC_000006.12:32670127:T:C	(self)
ss50396003	NT_007592.15:32577904:T:C	NC_000006.12:32670127:T:C	(self)
ss4025251584	NT_167247.2:3966625:C:C	NC_000006.12:32670127:T:C	(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 rs9274736

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

rs9274736