Name: rs2748287
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.

rs2748287

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:91429383 (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 / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.477736 (126452/264690, TOPMED)
G=0.480728 (67200/139788, GnomAD)
G=0.45138 (12755/28258, 14KJPN) (+ 17 more)
G=0.49206 (9295/18890, ALFA)
G=0.45167 (7570/16760, 8.3KJPN)
G=0.4675 (2994/6404, 1000G_30x)
G=0.4720 (2364/5008, 1000G)
G=0.4848 (2172/4480, Estonian)
A=0.4907 (1891/3854, ALSPAC)
A=0.4695 (1741/3708, TWINSUK)
G=0.4522 (1325/2930, KOREAN)
G=0.4623 (847/1832, Korea1K)
A=0.455 (454/998, GoNL)
A=0.462 (277/600, NorthernSweden)
G=0.344 (137/398, SGDP_PRJ)
G=0.460 (150/326, HapMap)
A=0.417 (90/216, Qatari)
G=0.458 (97/212, Vietnamese)
G=0.35 (16/46, Siberian)
A=0.40 (16/40, GENOME_DK)

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	18890	G=0.49206	A=0.50794
European	Sub	14286	G=0.50805	A=0.49195
African	Sub	2946	G=0.4243	A=0.5757
African Others	Sub	114	G=0.325	A=0.675
African American	Sub	2832	G=0.4283	A=0.5717
Asian	Sub	112	G=0.509	A=0.491
East Asian	Sub	86	G=0.52	A=0.48
Other Asian	Sub	26	G=0.46	A=0.54
Latin American 1	Sub	146	G=0.514	A=0.486
Latin American 2	Sub	610	G=0.395	A=0.605
South Asian	Sub	98	G=0.47	A=0.53
Other	Sub	692	G=0.532	A=0.468

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=0.477736	A=0.522264
gnomAD - Genomes	Global	Study-wide	139788	G=0.480728	A=0.519272
gnomAD - Genomes	European	Sub	75702	G=0.51907	A=0.48093
gnomAD - Genomes	African	Sub	41884	G=0.42849	A=0.57151
gnomAD - Genomes	American	Sub	13612	G=0.45071	A=0.54929
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.4069	A=0.5931
gnomAD - Genomes	East Asian	Sub	3122	G=0.4673	A=0.5327
gnomAD - Genomes	Other	Sub	2150	G=0.4716	A=0.5284
14KJPN	JAPANESE	Study-wide	28258	G=0.45138	A=0.54862
Allele Frequency Aggregator	Total	Global	18890	G=0.49206	A=0.50794
Allele Frequency Aggregator	European	Sub	14286	G=0.50805	A=0.49195
Allele Frequency Aggregator	African	Sub	2946	G=0.4243	A=0.5757
Allele Frequency Aggregator	Other	Sub	692	G=0.532	A=0.468
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.395	A=0.605
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.514	A=0.486
Allele Frequency Aggregator	Asian	Sub	112	G=0.509	A=0.491
Allele Frequency Aggregator	South Asian	Sub	98	G=0.47	A=0.53
8.3KJPN	JAPANESE	Study-wide	16760	G=0.45167	A=0.54833
1000Genomes_30x	Global	Study-wide	6404	G=0.4675	A=0.5325
1000Genomes_30x	African	Sub	1786	G=0.4300	A=0.5700
1000Genomes_30x	Europe	Sub	1266	G=0.5253	A=0.4747
1000Genomes_30x	South Asian	Sub	1202	G=0.5616	A=0.4384
1000Genomes_30x	East Asian	Sub	1170	G=0.4385	A=0.5615
1000Genomes_30x	American	Sub	980	G=0.381	A=0.619
1000Genomes	Global	Study-wide	5008	G=0.4720	A=0.5280
1000Genomes	African	Sub	1322	G=0.4228	A=0.5772
1000Genomes	East Asian	Sub	1008	G=0.4444	A=0.5556
1000Genomes	Europe	Sub	1006	G=0.5358	A=0.4642
1000Genomes	South Asian	Sub	978	G=0.569	A=0.431
1000Genomes	American	Sub	694	G=0.378	A=0.622
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.4848	A=0.5152
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5093	A=0.4907
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.5305	A=0.4695
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4522	A=0.5478, C=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.4623	A=0.5377
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.545	A=0.455
Northern Sweden	ACPOP	Study-wide	600	G=0.538	A=0.462
SGDP_PRJ	Global	Study-wide	398	G=0.344	A=0.656
HapMap	Global	Study-wide	326	G=0.460	A=0.540
HapMap	African	Sub	120	G=0.408	A=0.592
HapMap	American	Sub	118	G=0.517	A=0.483
HapMap	Asian	Sub	88	G=0.45	A=0.55
Qatari	Global	Study-wide	216	G=0.583	A=0.417
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.458	A=0.542
Siberian	Global	Study-wide	46	G=0.35	A=0.65
The Danish reference pan genome	Danish	Study-wide	40	G=0.60	A=0.40

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.91429383G>A
GRCh38.p14 chr 6	NC_000006.12:g.91429383G>C
GRCh37.p13 chr 6	NC_000006.11:g.92139101G>A
GRCh37.p13 chr 6	NC_000006.11:g.92139101G>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=	A	C
GRCh38.p14 chr 6	NC_000006.12:g.91429383=	NC_000006.12:g.91429383G>A	NC_000006.12:g.91429383G>C
GRCh37.p13 chr 6	NC_000006.11:g.92139101=	NC_000006.11:g.92139101G>A	NC_000006.11:g.92139101G>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#.

75 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3879773	Sep 28, 2001 (100)
2	SC_SNP	ss11121580	Jul 11, 2003 (117)
3	WI_SSAHASNP	ss11785461	Jul 11, 2003 (117)
4	SC_SNP	ss12806095	Dec 05, 2003 (119)
5	CSHL-HAPMAP	ss17103553	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss17874628	Feb 27, 2004 (120)
7	SSAHASNP	ss22399717	Apr 05, 2004 (121)
8	ABI	ss44756838	Mar 13, 2006 (126)
9	HGSV	ss78352121	Dec 06, 2007 (129)
10	BGI	ss104336629	Dec 01, 2009 (131)
11	1000GENOMES	ss110531402	Jan 24, 2009 (130)
12	1000GENOMES	ss114744780	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss116605987	Dec 01, 2009 (131)
14	ENSEMBL	ss139667881	Dec 01, 2009 (131)
15	GMI	ss157293909	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss162606341	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss163965080	Jul 04, 2010 (132)
18	BUSHMAN	ss202174133	Jul 04, 2010 (132)
19	1000GENOMES	ss222538571	Jul 14, 2010 (132)
20	1000GENOMES	ss233584189	Jul 15, 2010 (132)
21	1000GENOMES	ss240617950	Jul 15, 2010 (132)
22	GMI	ss278920516	May 04, 2012 (137)
23	GMI	ss285460984	Apr 25, 2013 (138)
24	PJP	ss293663237	May 09, 2011 (134)
25	TISHKOFF	ss559370363	Apr 25, 2013 (138)
26	SSMP	ss653381373	Apr 25, 2013 (138)
27	EVA-GONL	ss983231031	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1073830726	Aug 21, 2014 (142)
29	1000GENOMES	ss1321257224	Aug 21, 2014 (142)
30	DDI	ss1430819704	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1581791260	Apr 01, 2015 (144)
32	EVA_DECODE	ss1592784251	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1616153564	Apr 01, 2015 (144)
34	EVA_UK10K_TWINSUK	ss1659147597	Apr 01, 2015 (144)
35	HAMMER_LAB	ss1804558934	Sep 08, 2015 (146)
36	WEILL_CORNELL_DGM	ss1926486592	Feb 12, 2016 (147)
37	GENOMED	ss1970465247	Jul 19, 2016 (147)
38	JJLAB	ss2023887425	Sep 14, 2016 (149)
39	USC_VALOUEV	ss2152079726	Dec 20, 2016 (150)
40	HUMAN_LONGEVITY	ss2286204255	Dec 20, 2016 (150)
41	SYSTEMSBIOZJU	ss2626438649	Nov 08, 2017 (151)
42	GRF	ss2707699259	Nov 08, 2017 (151)
43	GNOMAD	ss2842179558	Nov 08, 2017 (151)
44	SWEGEN	ss2999540279	Nov 08, 2017 (151)
45	BIOINF_KMB_FNS_UNIBA	ss3025737750	Nov 08, 2017 (151)
46	CSHL	ss3347111627	Nov 08, 2017 (151)
47	URBANLAB	ss3648416206	Oct 12, 2018 (152)
48	EGCUT_WGS	ss3667423971	Jul 13, 2019 (153)
49	EVA_DECODE	ss3717767767	Jul 13, 2019 (153)
50	ACPOP	ss3733757170	Jul 13, 2019 (153)
51	EVA	ss3765359486	Jul 13, 2019 (153)
52	PACBIO	ss3785552668	Jul 13, 2019 (153)
53	PACBIO	ss3790891919	Jul 13, 2019 (153)
54	PACBIO	ss3795771072	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3808509614	Jul 13, 2019 (153)
56	EVA	ss3830069281	Apr 26, 2020 (154)
57	EVA	ss3838516322	Apr 26, 2020 (154)
58	EVA	ss3843964364	Apr 26, 2020 (154)
59	SGDP_PRJ	ss3865173324	Apr 26, 2020 (154)
60	KRGDB	ss3912072929	Apr 26, 2020 (154)
61	KOGIC	ss3959585346	Apr 26, 2020 (154)
62	TOPMED	ss4712796803	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5178773213	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5269446214	Oct 14, 2022 (156)
65	EVA	ss5367386993	Oct 14, 2022 (156)
66	HUGCELL_USP	ss5466976386	Oct 14, 2022 (156)
67	EVA	ss5508613101	Oct 14, 2022 (156)
68	1000G_HIGH_COVERAGE	ss5555899243	Oct 14, 2022 (156)
69	SANFORD_IMAGENETICS	ss5640977863	Oct 14, 2022 (156)
70	TOMMO_GENOMICS	ss5717318247	Oct 14, 2022 (156)
71	YY_MCH	ss5807731140	Oct 14, 2022 (156)
72	EVA	ss5842643084	Oct 14, 2022 (156)
73	EVA	ss5855472627	Oct 14, 2022 (156)
74	EVA	ss5884922986	Oct 14, 2022 (156)
75	EVA	ss5969483505	Oct 14, 2022 (156)
76	1000Genomes	NC_000006.11 - 92139101	Oct 12, 2018 (152)
77	1000Genomes_30x	NC_000006.12 - 91429383	Oct 14, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 92139101	Oct 12, 2018 (152)
79	Genetic variation in the Estonian population	NC_000006.11 - 92139101	Oct 12, 2018 (152)
80	The Danish reference pan genome	NC_000006.11 - 92139101	Apr 26, 2020 (154)
81	gnomAD - Genomes	NC_000006.12 - 91429383	Apr 26, 2021 (155)
82	Genome of the Netherlands Release 5	NC_000006.11 - 92139101	Apr 26, 2020 (154)
83	HapMap	NC_000006.12 - 91429383	Apr 26, 2020 (154)
84	KOREAN population from KRGDB	NC_000006.11 - 92139101	Apr 26, 2020 (154)
85	Korean Genome Project	NC_000006.12 - 91429383	Apr 26, 2020 (154)
86	Northern Sweden	NC_000006.11 - 92139101	Jul 13, 2019 (153)
87	Qatari	NC_000006.11 - 92139101	Apr 26, 2020 (154)
88	SGDP_PRJ	NC_000006.11 - 92139101	Apr 26, 2020 (154)
89	Siberian	NC_000006.11 - 92139101	Apr 26, 2020 (154)
90	8.3KJPN	NC_000006.11 - 92139101	Apr 26, 2021 (155)
91	14KJPN	NC_000006.12 - 91429383	Oct 14, 2022 (156)
92	TopMed	NC_000006.12 - 91429383	Apr 26, 2021 (155)
93	UK 10K study - Twins	NC_000006.11 - 92139101	Oct 12, 2018 (152)
94	A Vietnamese Genetic Variation Database	NC_000006.11 - 92139101	Jul 13, 2019 (153)
95	ALFA	NC_000006.12 - 91429383	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)
rs6454857	Aug 27, 2003 (117)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78352121	NC_000006.9:92195821:G:A	NC_000006.12:91429382:G:A	(self)
ss110531402, ss114744780, ss116605987, ss162606341, ss163965080, ss202174133, ss278920516, ss285460984, ss293663237, ss1592784251	NC_000006.10:92195821:G:A	NC_000006.12:91429382:G:A	(self)
33087049, 18430350, 13162219, 7956199, 8212245, 19250323, 7042035, 8528522, 17190304, 4596080, 36742520, 18430350, 4096403, ss222538571, ss233584189, ss240617950, ss559370363, ss653381373, ss983231031, ss1073830726, ss1321257224, ss1430819704, ss1581791260, ss1616153564, ss1659147597, ss1804558934, ss1926486592, ss1970465247, ss2023887425, ss2152079726, ss2626438649, ss2707699259, ss2842179558, ss2999540279, ss3347111627, ss3667423971, ss3733757170, ss3765359486, ss3785552668, ss3790891919, ss3795771072, ss3830069281, ss3838516322, ss3865173324, ss3912072929, ss5178773213, ss5367386993, ss5508613101, ss5640977863, ss5842643084, ss5969483505	NC_000006.11:92139100:G:A	NC_000006.12:91429382:G:A	(self)
43425178, 233489717, 3191544, 15963347, 51155351, 550174361, 8038285597, ss2286204255, ss3025737750, ss3648416206, ss3717767767, ss3808509614, ss3843964364, ss3959585346, ss4712796803, ss5269446214, ss5466976386, ss5555899243, ss5717318247, ss5807731140, ss5855472627, ss5884922986	NC_000006.12:91429382:G:A	NC_000006.12:91429382:G:A	(self)
ss11121580, ss11785461, ss17103553, ss17874628, ss22399717	NT_007299.12:29959273:G:A	NC_000006.12:91429382:G:A	(self)
ss3879773, ss12806095, ss44756838, ss104336629, ss139667881, ss157293909	NT_007299.13:30258934:G:A	NC_000006.12:91429382:G:A	(self)
19250323, ss3912072929	NC_000006.11:92139100:G:C	NC_000006.12:91429382:G: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 rs2748287

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

rs2748287