Name: rs9368672
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.

rs9368672

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:31301952 (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: A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.020371 (5392/264690, TOPMED)
T=0.017573 (2463/140158, GnomAD)
T=0.17323 (4895/28258, 14KJPN) (+ 16 more)
T=0.01605 (322/20062, ALFA)
T=0.17452 (2925/16760, 8.3KJPN)
T=0.0598 (383/6404, 1000G_30x)
T=0.0613 (307/5008, 1000G)
T=0.0266 (119/4480, Estonian)
T=0.0093 (36/3854, ALSPAC)
T=0.0070 (26/3708, TWINSUK)
T=0.1563 (458/2930, KOREAN)
T=0.015 (15/998, GoNL)
T=0.007 (4/600, NorthernSweden)
T=0.049 (16/328, HapMap)
T=0.023 (5/216, Qatari)
T=0.160 (34/212, Vietnamese)
A=0.48 (25/52, SGDP_PRJ)
A=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC02571 : 2KB Upstream Variant
LOC112267902 : Intron Variant
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	20062	A=0.98395	T=0.01605
European	Sub	15430	A=0.98432	T=0.01568
African	Sub	2946	A=0.9959	T=0.0041
African Others	Sub	114	A=1.000	T=0.000
African American	Sub	2832	A=0.9958	T=0.0042
Asian	Sub	112	A=0.920	T=0.080
East Asian	Sub	86	A=0.92	T=0.08
Other Asian	Sub	26	A=0.92	T=0.08
Latin American 1	Sub	146	A=0.986	T=0.014
Latin American 2	Sub	610	A=0.939	T=0.061
South Asian	Sub	98	A=0.98	T=0.02
Other	Sub	720	A=0.975	T=0.025

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	A=0.979629	T=0.020371
gnomAD - Genomes	Global	Study-wide	140158	A=0.982427	T=0.017573
gnomAD - Genomes	European	Sub	75904	A=0.98619	T=0.01381
gnomAD - Genomes	African	Sub	41994	A=0.99571	T=0.00429
gnomAD - Genomes	American	Sub	13652	A=0.96272	T=0.03728
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.9826	T=0.0174
gnomAD - Genomes	East Asian	Sub	3132	A=0.8027	T=0.1973
gnomAD - Genomes	Other	Sub	2152	A=0.9768	T=0.0232
14KJPN	JAPANESE	Study-wide	28258	A=0.82677	T=0.17323
Allele Frequency Aggregator	Total	Global	20062	A=0.98395	T=0.01605
Allele Frequency Aggregator	European	Sub	15430	A=0.98432	T=0.01568
Allele Frequency Aggregator	African	Sub	2946	A=0.9959	T=0.0041
Allele Frequency Aggregator	Other	Sub	720	A=0.975	T=0.025
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.939	T=0.061
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.986	T=0.014
Allele Frequency Aggregator	Asian	Sub	112	A=0.920	T=0.080
Allele Frequency Aggregator	South Asian	Sub	98	A=0.98	T=0.02
8.3KJPN	JAPANESE	Study-wide	16760	A=0.82548	T=0.17452
1000Genomes_30x	Global	Study-wide	6404	A=0.9402	T=0.0598
1000Genomes_30x	African	Sub	1786	A=0.9938	T=0.0062
1000Genomes_30x	Europe	Sub	1266	A=0.9874	T=0.0126
1000Genomes_30x	South Asian	Sub	1202	A=0.9667	T=0.0333
1000Genomes_30x	East Asian	Sub	1170	A=0.7983	T=0.2017
1000Genomes_30x	American	Sub	980	A=0.918	T=0.082
1000Genomes	Global	Study-wide	5008	A=0.9387	T=0.0613
1000Genomes	African	Sub	1322	A=0.9947	T=0.0053
1000Genomes	East Asian	Sub	1008	A=0.8016	T=0.1984
1000Genomes	Europe	Sub	1006	A=0.9861	T=0.0139
1000Genomes	South Asian	Sub	978	A=0.969	T=0.031
1000Genomes	American	Sub	694	A=0.919	T=0.081
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9734	T=0.0266
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9907	T=0.0093
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9930	T=0.0070
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.8437	T=0.1563
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.985	T=0.015
Northern Sweden	ACPOP	Study-wide	600	A=0.993	T=0.007
HapMap	Global	Study-wide	328	A=0.951	T=0.049
HapMap	African	Sub	120	A=0.992	T=0.008
HapMap	American	Sub	118	A=1.000	T=0.000
HapMap	Asian	Sub	90	A=0.83	T=0.17
Qatari	Global	Study-wide	216	A=0.977	T=0.023
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.840	T=0.160
SGDP_PRJ	Global	Study-wide	52	A=0.48	T=0.52
Siberian	Global	Study-wide	2	A=0.5	T=0.5

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.31301952A>T
GRCh37.p13 chr 6	NC_000006.11:g.31269729A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2782859A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2782965A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2557599A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2563195A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2559694A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2565279A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2604125A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2603423A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2610933A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2616553A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2644642A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2650227A>T

Gene: LINC02571, long intergenic non-protein coding RNA 2571 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LINC02571 transcript	NR_149115.1:n.	N/A	Upstream Transcript Variant

Gene: LOC112267902, uncharacterized LOC112267902 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC112267902 transcript variant X1	XR_926691.3:n.	N/A	Intron Variant

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	A=	T
GRCh38.p14 chr 6	NC_000006.12:g.31301952=	NC_000006.12:g.31301952A>T
GRCh37.p13 chr 6	NC_000006.11:g.31269729=	NC_000006.11:g.31269729A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2782859=	NT_113891.3:g.2782859A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2782965=	NT_113891.2:g.2782965A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2557599=	NT_167248.2:g.2557599A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2563195=	NT_167248.1:g.2563195A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2559694=	NT_167245.2:g.2559694A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2565279=	NT_167245.1:g.2565279A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2604125=	NT_167249.2:g.2604125A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2603423=	NT_167249.1:g.2603423A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2610933=	NT_167246.2:g.2610933A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2616553=	NT_167246.1:g.2616553A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2644642=	NT_167247.2:g.2644642A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2650227=	NT_167247.1:g.2650227A>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#.

53 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12838046	Dec 05, 2003 (119)
2	HGSV	ss83480540	Dec 14, 2007 (130)
3	BGI	ss104295611	Dec 01, 2009 (137)
4	1000GENOMES	ss109893294	Feb 13, 2009 (137)
5	ILLUMINA	ss160981321	Dec 01, 2009 (137)
6	1000GENOMES	ss240465594	Jul 15, 2010 (137)
7	PJP	ss293823848	May 09, 2011 (137)
8	GMI	ss475687683	May 04, 2012 (137)
9	ILLUMINA	ss482872528	Sep 08, 2015 (146)
10	ILLUMINA	ss537591711	Sep 08, 2015 (146)
11	SSMP	ss653030006	Apr 25, 2013 (138)
12	ILLUMINA	ss778655189	Aug 21, 2014 (142)
13	ILLUMINA	ss834113084	Aug 21, 2014 (142)
14	EVA-GONL	ss982759689	Aug 21, 2014 (142)
15	JMKIDD_LAB	ss1073502436	Aug 21, 2014 (142)
16	1000GENOMES	ss1319547269	Aug 21, 2014 (142)
17	EVA_DECODE	ss1592305820	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1615272306	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1658266339	Apr 01, 2015 (144)
20	WEILL_CORNELL_DGM	ss1926011162	Feb 12, 2016 (147)
21	GENOMED	ss1970354733	Jul 19, 2016 (147)
22	USC_VALOUEV	ss2151802663	Nov 08, 2017 (151)
23	HUMAN_LONGEVITY	ss2282934209	Dec 20, 2016 (150)
24	SYSTEMSBIOZJU	ss2626304927	Nov 08, 2017 (151)
25	ILLUMINA	ss2634428520	Nov 08, 2017 (151)
26	GRF	ss2707395729	Nov 08, 2017 (151)
27	GNOMAD	ss2837403221	Nov 08, 2017 (151)
28	SWEGEN	ss2998787021	Nov 08, 2017 (151)
29	ILLUMINA	ss3629500821	Oct 12, 2018 (152)
30	ILLUMINA	ss3632347227	Oct 12, 2018 (152)
31	ILLUMINA	ss3636776960	Oct 12, 2018 (152)
32	EGCUT_WGS	ss3666706807	Jul 13, 2019 (153)
33	EVA_DECODE	ss3716899679	Jul 13, 2019 (153)
34	ACPOP	ss3733354842	Jul 13, 2019 (153)
35	EVA	ss3764815770	Jul 13, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3807970366	Jul 13, 2019 (153)
37	EVA	ss3838391381	Apr 26, 2020 (154)
38	EVA	ss3843833029	Apr 26, 2020 (154)
39	SGDP_PRJ	ss3864243841	Apr 26, 2020 (154)
40	KRGDB	ss3911019289	Apr 26, 2020 (154)
41	TOPMED	ss4698343114	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5176822807	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5267926396	Oct 13, 2022 (156)
44	EVA	ss5315141266	Oct 13, 2022 (156)
45	EVA	ss5364710585	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5465662998	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5553580133	Oct 13, 2022 (156)
48	SANFORD_IMAGENETICS	ss5640080403	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5714674480	Oct 13, 2022 (156)
50	YY_MCH	ss5807299980	Oct 13, 2022 (156)
51	EVA	ss5842019191	Oct 13, 2022 (156)
52	EVA	ss5883234337	Oct 13, 2022 (156)
53	EVA	ss5968583428	Oct 13, 2022 (156)
54	1000Genomes	NC_000006.11 - 31269729	Oct 12, 2018 (152)
55	1000Genomes_30x	NC_000006.12 - 31301952	Oct 13, 2022 (156)
56	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 31269729	Oct 12, 2018 (152)
57	Genetic variation in the Estonian population	NC_000006.11 - 31269729	Oct 12, 2018 (152)
58	gnomAD - Genomes	NC_000006.12 - 31301952	Apr 26, 2021 (155)
59	Genome of the Netherlands Release 5	NC_000006.11 - 31269729	Apr 26, 2020 (154)
60	HapMap	NC_000006.12 - 31301952	Apr 26, 2020 (154)
61	KOREAN population from KRGDB	NC_000006.11 - 31269729	Apr 26, 2020 (154)
62	Northern Sweden	NC_000006.11 - 31269729	Jul 13, 2019 (153)
63	Qatari	NC_000006.11 - 31269729	Apr 26, 2020 (154)
64	SGDP_PRJ	NC_000006.11 - 31269729	Apr 26, 2020 (154)
65	Siberian	NC_000006.11 - 31269729	Apr 26, 2020 (154)
66	8.3KJPN	NC_000006.11 - 31269729	Apr 26, 2021 (155)
67	14KJPN	NC_000006.12 - 31301952	Oct 13, 2022 (156)
68	TopMed	NC_000006.12 - 31301952	Apr 26, 2021 (155)
69	UK 10K study - Twins	NC_000006.11 - 31269729	Oct 12, 2018 (152)
70	A Vietnamese Genetic Variation Database	NC_000006.11 - 31269729	Jul 13, 2019 (153)
71	ALFA	NC_000006.12 - 31301952	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)
rs56805030	May 23, 2008 (130)
rs78366534	May 04, 2012 (137)
rs117908477	May 04, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83480540	NC_000006.9:31377707:A:T	NC_000006.12:31301951:A:T	(self)
ss109893294, ss293823848, ss475687683, ss1592305820	NC_000006.10:31377707:A:T	NC_000006.12:31301951:A:T	(self)
31314229, 17461181, 12445055, 7758978, 18196683, 6639707, 8053092, 16260821, 4319017, 34792114, 17461181, 3870466, ss240465594, ss482872528, ss537591711, ss653030006, ss778655189, ss834113084, ss982759689, ss1073502436, ss1319547269, ss1615272306, ss1658266339, ss1926011162, ss1970354733, ss2151802663, ss2626304927, ss2634428520, ss2707395729, ss2837403221, ss2998787021, ss3629500821, ss3632347227, ss3636776960, ss3666706807, ss3733354842, ss3764815770, ss3838391381, ss3864243841, ss3911019289, ss5176822807, ss5315141266, ss5364710585, ss5640080403, ss5842019191, ss5968583428	NC_000006.11:31269728:A:T	NC_000006.12:31301951:A:T	(self)
41106068, 221167278, 3098953, 48511584, 535720672, 14744629236, ss2282934209, ss3716899679, ss3807970366, ss3843833029, ss4698343114, ss5267926396, ss5465662998, ss5553580133, ss5714674480, ss5807299980, ss5883234337	NC_000006.12:31301951:A:T	NC_000006.12:31301951:A:T	(self)
ss12838046	NT_007592.13:22124727:A:T	NC_000006.12:31301951:A:T	(self)
ss104295611, ss160981321	NT_007592.15:31209728:A:T	NC_000006.12:31301951:A: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 rs9368672

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

rs9368672