Name: rs9266844
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.

rs9266844

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:31416554 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.320601 (84860/264690, TOPMED)
C=0.321359 (44933/139822, GnomAD)
C=0.27468 (7757/28240, 14KJPN) (+ 3 more)
C=0.29407 (5555/18890, ALFA)
C=0.3449 (2209/6404, 1000G_30x)
C=0.306 (95/310, HapMap)

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	14050	G=0.70434	C=0.29566
European	Sub	9690	G=0.7409	C=0.2591
African	Sub	2898	G=0.6001	C=0.3999
African Others	Sub	114	G=0.535	C=0.465
African American	Sub	2784	G=0.6027	C=0.3973
Asian	Sub	112	G=0.732	C=0.268
East Asian	Sub	86	G=0.72	C=0.28
Other Asian	Sub	26	G=0.77	C=0.23
Latin American 1	Sub	146	G=0.705	C=0.295
Latin American 2	Sub	610	G=0.618	C=0.382
South Asian	Sub	98	G=0.67	C=0.33
Other	Sub	496	G=0.706	C=0.294

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	G=0.679399	C=0.320601
gnomAD - Genomes	Global	Study-wide	139822	G=0.678641	C=0.321359
gnomAD - Genomes	European	Sub	75902	G=0.72602	C=0.27398
gnomAD - Genomes	African	Sub	41786	G=0.60252	C=0.39748
gnomAD - Genomes	American	Sub	13562	G=0.65307	C=0.34693
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	G=0.6485	C=0.3515
gnomAD - Genomes	East Asian	Sub	3108	G=0.6782	C=0.3218
gnomAD - Genomes	Other	Sub	2150	G=0.6940	C=0.3060
14KJPN	JAPANESE	Study-wide	28240	G=0.72532	C=0.27468
Allele Frequency Aggregator	Total	Global	18890	G=0.70593	C=0.29407
Allele Frequency Aggregator	European	Sub	14286	G=0.73128	C=0.26872
Allele Frequency Aggregator	African	Sub	2946	G=0.6012	C=0.3988
Allele Frequency Aggregator	Other	Sub	692	G=0.707	C=0.293
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.618	C=0.382
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.705	C=0.295
Allele Frequency Aggregator	Asian	Sub	112	G=0.732	C=0.268
Allele Frequency Aggregator	South Asian	Sub	98	G=0.67	C=0.33
1000Genomes_30x	Global	Study-wide	6404	G=0.6551	C=0.3449
1000Genomes_30x	African	Sub	1786	G=0.5554	C=0.4446
1000Genomes_30x	Europe	Sub	1266	G=0.7148	C=0.2852
1000Genomes_30x	South Asian	Sub	1202	G=0.7055	C=0.2945
1000Genomes_30x	East Asian	Sub	1170	G=0.7017	C=0.2983
1000Genomes_30x	American	Sub	980	G=0.642	C=0.358
HapMap	Global	Study-wide	310	G=0.694	C=0.306
HapMap	American	Sub	114	G=0.816	C=0.184
HapMap	African	Sub	110	G=0.555	C=0.445
HapMap	Asian	Sub	86	G=0.71	C=0.29

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.31416554G>C
GRCh37.p13 chr 6	NC_000006.11:g.31384331G>C
MICA RefSeqGene	NG_034139.1:g.21871C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2896925G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2897031G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2672281C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2677877C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2718831G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2718129G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2725141G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2730761G>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	G=	C
GRCh38.p14 chr 6	NC_000006.12:g.31416554=	NC_000006.12:g.31416554G>C
GRCh37.p13 chr 6	NC_000006.11:g.31384331=	NC_000006.11:g.31384331G>C
MICA RefSeqGene	NG_034139.1:g.21871C>G	NG_034139.1:g.21871=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2896925=	NT_113891.3:g.2896925G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2897031=	NT_113891.2:g.2897031G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2672281C>G	NT_167248.2:g.2672281=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2677877C>G	NT_167248.1:g.2677877=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2718831=	NT_167249.2:g.2718831G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2718129=	NT_167249.1:g.2718129G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2725141=	NT_167246.2:g.2725141G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2730761=	NT_167246.1:g.2730761G>C

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#.

13 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMAN_LONGEVITY	ss2282939309	Dec 20, 2016 (150)
2	BIOINF_KMB_FNS_UNIBA	ss3025607352	Nov 08, 2017 (151)
3	EVA_DECODE	ss3716905160	Jul 13, 2019 (153)
4	KHV_HUMAN_GENOMES	ss3807975719	Jul 13, 2019 (153)
5	EVA	ss3843836002	Apr 26, 2020 (154)
6	TOPMED	ss4698363297	Apr 26, 2021 (155)
7	1000G_HIGH_COVERAGE	ss5267932796	Oct 13, 2022 (156)
8	HUGCELL_USP	ss5465667566	Oct 13, 2022 (156)
9	1000G_HIGH_COVERAGE	ss5553587959	Oct 13, 2022 (156)
10	TOMMO_GENOMICS	ss5714684459	Oct 13, 2022 (156)
11	YY_MCH	ss5807305392	Oct 13, 2022 (156)
12	EVA	ss5855282792	Oct 13, 2022 (156)
13	EVA	ss5883240140	Oct 13, 2022 (156)
14	1000Genomes_30x	NC_000006.12 - 31416554	Oct 13, 2022 (156)
15	gnomAD - Genomes	NC_000006.12 - 31416554	Apr 26, 2021 (155)
16	HapMap	NC_000006.12 - 31416554	Apr 26, 2020 (154)
17	14KJPN	NC_000006.12 - 31416554	Oct 13, 2022 (156)
18	TopMed	NC_000006.12 - 31416554	Apr 26, 2021 (155)
19	ALFA	NC_000006.12 - 31416554	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)
rs115306902	Mar 28, 2012 (136)
rs116883792	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
41113894, 221191198, 3099628, 48521563, 535740855, 8556129512, ss2282939309, ss3025607352, ss3716905160, ss3807975719, ss3843836002, ss4698363297, ss5267932796, ss5465667566, ss5553587959, ss5714684459, ss5807305392, ss5855282792, ss5883240140	NC_000006.12:31416553:G:C	NC_000006.12:31416553:G:C	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss109899049, ss163344920, ss278725614, ss293825272, ss1592308076	NC_000006.10:31492309:G:C	NC_000006.12:31416553:G:C	rs2113412446
18202919, ss3911025525	NC_000006.11:31384330:G:A	NC_000006.12:31416553:G:A	rs2113412456
31321251, 17464078, 12446586, 7770396, 7762878, 18202919, 6644592, 8058013, 16267509, 4323413, 34800613, 17464078, 3872441, ss222302941, ss233397883, ss240468814, ss535665557, ss559112960, ss653033747, ss982763913, ss1073504459, ss1319554053, ss1581605457, ss1615274903, ss1658268936, ss1804357157, ss1926016083, ss1970356730, ss2023640841, ss2151807059, ss2626307556, ss2707400608, ss2837415989, ss2985361498, ss2998792962, ss3629502373, ss3666708338, ss3733359727, ss3764820316, ss3785424854, ss3790784300, ss3795661805, ss3829831447, ss3838393845, ss3864250529, ss3911025525, ss5176831306	NC_000006.11:31384330:G:C	NC_000006.12:31416553:G:C	rs2113412456
ss13096857	NT_007592.13:22238802:G:C	NC_000006.12:31416553:G:C	rs2113412475
ss12690509, ss68971532, ss105990846, ss156742878	NT_007592.15:31324330:G:C	NC_000006.12:31416553:G:C	rs2113412480
ss4025187661	NT_113891.3:2896924:G:C	NC_000006.12:31416553:G:C	rs2113412489
ss4025228750	NT_167246.2:2725140:G:C	NC_000006.12:31416553:G:C	rs2113412500
ss4025286644	NT_167249.2:2718830:G:C	NC_000006.12:31416553:G:C	rs2113412512

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs9266844

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

rs9266844