Name: rs1396255
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.

rs1396255

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:86624727 (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: G=0.017186 (4549/264690, TOPMED)
G=0.015896 (2228/140158, GnomAD)
G=0.00000 (0/28258, 14KJPN) (+ 15 more)
G=0.00904 (254/28084, ALFA)
G=0.00000 (0/16760, 8.3KJPN)
G=0.0181 (116/6404, 1000G_30x)
G=0.0170 (85/5008, 1000G)
G=0.0005 (2/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
G=0.0000 (0/2930, KOREAN)
G=0.0005 (1/1832, Korea1K)
G=0.000 (0/600, NorthernSweden)
G=0.005 (3/558, SGDP_PRJ)
G=0.019 (6/312, HapMap)
G=0.000 (0/216, Qatari)
G=0.000 (0/216, Vietnamese)
G=0.00 (0/56, Siberian)
G=0.00 (0/40, 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	28084	G=0.00904	A=0.99096
European	Sub	18886	G=0.00016	A=0.99984
African	Sub	4590	G=0.0508	A=0.9492
African Others	Sub	172	G=0.064	A=0.936
African American	Sub	4418	G=0.0502	A=0.9498
Asian	Sub	150	G=0.000	A=1.000
East Asian	Sub	116	G=0.000	A=1.000
Other Asian	Sub	34	G=0.00	A=1.00
Latin American 1	Sub	482	G=0.010	A=0.990
Latin American 2	Sub	666	G=0.002	A=0.998
South Asian	Sub	144	G=0.000	A=1.000
Other	Sub	3166	G=0.0038	A=0.9962

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=0.017186	A=0.982814
gnomAD - Genomes	Global	Study-wide	140158	G=0.015896	A=0.984104
gnomAD - Genomes	European	Sub	75934	G=0.00022	A=0.99978
gnomAD - Genomes	African	Sub	42028	G=0.04999	A=0.95001
gnomAD - Genomes	American	Sub	13598	G=0.00603	A=0.99397
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.0000	A=1.0000
gnomAD - Genomes	East Asian	Sub	3128	G=0.0000	A=1.0000
gnomAD - Genomes	Other	Sub	2146	G=0.0130	A=0.9870
14KJPN	JAPANESE	Study-wide	28258	G=0.00000	A=1.00000
Allele Frequency Aggregator	Total	Global	28084	G=0.00904	A=0.99096
Allele Frequency Aggregator	European	Sub	18886	G=0.00016	A=0.99984
Allele Frequency Aggregator	African	Sub	4590	G=0.0508	A=0.9492
Allele Frequency Aggregator	Other	Sub	3166	G=0.0038	A=0.9962
Allele Frequency Aggregator	Latin American 2	Sub	666	G=0.002	A=0.998
Allele Frequency Aggregator	Latin American 1	Sub	482	G=0.010	A=0.990
Allele Frequency Aggregator	Asian	Sub	150	G=0.000	A=1.000
Allele Frequency Aggregator	South Asian	Sub	144	G=0.000	A=1.000
8.3KJPN	JAPANESE	Study-wide	16760	G=0.00000	A=1.00000
1000Genomes_30x	Global	Study-wide	6404	G=0.0181	A=0.9819
1000Genomes_30x	African	Sub	1786	G=0.0633	A=0.9367
1000Genomes_30x	Europe	Sub	1266	G=0.0008	A=0.9992
1000Genomes_30x	South Asian	Sub	1202	G=0.0000	A=1.0000
1000Genomes_30x	East Asian	Sub	1170	G=0.0000	A=1.0000
1000Genomes_30x	American	Sub	980	G=0.002	A=0.998
1000Genomes	Global	Study-wide	5008	G=0.0170	A=0.9830
1000Genomes	African	Sub	1322	G=0.0620	A=0.9380
1000Genomes	East Asian	Sub	1008	G=0.0000	A=1.0000
1000Genomes	Europe	Sub	1006	G=0.0010	A=0.9990
1000Genomes	South Asian	Sub	978	G=0.000	A=1.000
1000Genomes	American	Sub	694	G=0.003	A=0.997
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.0005	A=0.9995
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.0000	A=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.0000	A=1.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.0005	A=0.9995
Northern Sweden	ACPOP	Study-wide	600	G=0.000	A=1.000
SGDP_PRJ	Global	Study-wide	558	G=0.005	A=0.995
HapMap	Global	Study-wide	312	G=0.019	A=0.981
HapMap	American	Sub	114	G=0.000	A=1.000
HapMap	African	Sub	110	G=0.055	A=0.945
HapMap	Asian	Sub	88	G=0.00	A=1.00
Qatari	Global	Study-wide	216	G=0.000	A=1.000
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.000	A=1.000
Siberian	Global	Study-wide	56	G=0.00	A=1.00
The Danish reference pan genome	Danish	Study-wide	40	G=0.00	A=1.00

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.86624727G>A
GRCh37.p13 chr 6	NC_000006.11:g.87334445G>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.86624727=	NC_000006.12:g.86624727G>A
GRCh37.p13 chr 6	NC_000006.11:g.87334445=	NC_000006.11:g.87334445G>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#.

76 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2192103	Oct 23, 2000 (88)
2	SC_JCM	ss5713622	Feb 20, 2003 (111)
3	SC_JCM	ss6272389	Feb 20, 2003 (111)
4	BCM_SSAHASNP	ss10335839	Jul 11, 2003 (116)
5	WI_SSAHASNP	ss11829989	Jul 11, 2003 (116)
6	SC_SNP	ss12800368	Dec 05, 2003 (119)
7	CSHL-HAPMAP	ss17145230	Feb 27, 2004 (120)
8	SSAHASNP	ss22491276	Apr 05, 2004 (121)
9	ABI	ss42725676	Mar 13, 2006 (126)
10	HGSV	ss77333748	Dec 07, 2007 (129)
11	HGSV	ss84918486	Dec 15, 2007 (130)
12	BCMHGSC_JDW	ss93510564	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss98412509	Feb 05, 2009 (130)
14	BGI	ss106018326	Feb 05, 2009 (130)
15	1000GENOMES	ss110486044	Jan 24, 2009 (130)
16	1000GENOMES	ss114699761	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss116590508	Feb 14, 2009 (130)
18	ENSEMBL	ss142929804	Dec 01, 2009 (131)
19	ENSEMBL	ss144124165	Dec 01, 2009 (131)
20	GMI	ss157257610	Dec 01, 2009 (131)
21	ILLUMINA	ss160347132	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss163904688	Jul 04, 2010 (132)
23	BUSHMAN	ss202134566	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss207376077	Jul 04, 2010 (132)
25	1000GENOMES	ss222521005	Jul 14, 2010 (132)
26	1000GENOMES	ss233571537	Jul 15, 2010 (132)
27	1000GENOMES	ss240608395	Jul 15, 2010 (132)
28	GMI	ss278907944	May 04, 2012 (137)
29	GMI	ss285455739	Apr 25, 2013 (138)
30	PJP	ss293656745	May 09, 2011 (134)
31	ILLUMINA	ss480606472	Sep 08, 2015 (146)
32	SSMP	ss653332185	Apr 25, 2013 (138)
33	JMKIDD_LAB	ss1073805528	Aug 21, 2014 (142)
34	1000GENOMES	ss1321123255	Aug 21, 2014 (142)
35	DDI	ss1430810115	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1581778218	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1616081127	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1659075160	Apr 01, 2015 (144)
39	HAMMER_LAB	ss1804544650	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1926453333	Feb 12, 2016 (147)
41	GENOMED	ss1970458080	Jul 19, 2016 (147)
42	JJLAB	ss2023870016	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2152062219	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2285926642	Dec 20, 2016 (150)
45	GRF	ss2707680140	Nov 08, 2017 (151)
46	GNOMAD	ss2841795891	Nov 08, 2017 (151)
47	SWEGEN	ss2999486849	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3025728859	Nov 08, 2017 (151)
49	CSHL	ss3347096339	Nov 08, 2017 (151)
50	ILLUMINA	ss3636800648	Oct 12, 2018 (152)
51	URBANLAB	ss3648409183	Oct 12, 2018 (152)
52	EVA_DECODE	ss3717702405	Jul 13, 2019 (153)
53	ACPOP	ss3733728675	Jul 13, 2019 (153)
54	EVA	ss3765319730	Jul 13, 2019 (153)
55	PACBIO	ss3785543328	Jul 13, 2019 (153)
56	PACBIO	ss3790883959	Jul 13, 2019 (153)
57	PACBIO	ss3795763096	Jul 13, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3808469930	Jul 13, 2019 (153)
59	EVA	ss3830053128	Apr 26, 2020 (154)
60	EVA	ss3838508300	Apr 26, 2020 (154)
61	EVA	ss3843956100	Apr 26, 2020 (154)
62	SGDP_PRJ	ss3865104528	Apr 26, 2020 (154)
63	KRGDB	ss3911994767	Apr 26, 2020 (154)
64	KOGIC	ss3959520881	Apr 26, 2020 (154)
65	TOPMED	ss4711630679	Apr 26, 2021 (155)
66	TOMMO_GENOMICS	ss5178622073	Apr 26, 2021 (155)
67	1000G_HIGH_COVERAGE	ss5269327708	Oct 14, 2022 (156)
68	HUGCELL_USP	ss5466870573	Oct 14, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5555721695	Oct 14, 2022 (156)
70	SANFORD_IMAGENETICS	ss5640909908	Oct 14, 2022 (156)
71	TOMMO_GENOMICS	ss5717123785	Oct 14, 2022 (156)
72	YY_MCH	ss5807702762	Oct 14, 2022 (156)
73	EVA	ss5842597466	Oct 14, 2022 (156)
74	EVA	ss5855459361	Oct 14, 2022 (156)
75	EVA	ss5884788873	Oct 14, 2022 (156)
76	EVA	ss5969412977	Oct 14, 2022 (156)
77	1000Genomes	NC_000006.11 - 87334445	Oct 12, 2018 (152)
78	1000Genomes_30x	NC_000006.12 - 86624727	Oct 14, 2022 (156)
79	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 87334445	Oct 12, 2018 (152)
80	The Danish reference pan genome	NC_000006.11 - 87334445	Apr 26, 2020 (154)
81	gnomAD - Genomes	NC_000006.12 - 86624727	Apr 26, 2021 (155)
82	HapMap	NC_000006.12 - 86624727	Apr 26, 2020 (154)
83	KOREAN population from KRGDB	NC_000006.11 - 87334445	Apr 26, 2020 (154)
84	Korean Genome Project	NC_000006.12 - 86624727	Apr 26, 2020 (154)
85	Northern Sweden	NC_000006.11 - 87334445	Jul 13, 2019 (153)
86	Qatari	NC_000006.11 - 87334445	Apr 26, 2020 (154)
87	SGDP_PRJ	NC_000006.11 - 87334445	Apr 26, 2020 (154)
88	Siberian	NC_000006.11 - 87334445	Apr 26, 2020 (154)
89	8.3KJPN	NC_000006.11 - 87334445	Apr 26, 2021 (155)
90	14KJPN	NC_000006.12 - 86624727	Oct 14, 2022 (156)
91	TopMed	NC_000006.12 - 86624727	Apr 26, 2021 (155)
92	UK 10K study - Twins	NC_000006.11 - 87334445	Oct 12, 2018 (152)
93	A Vietnamese Genetic Variation Database	NC_000006.11 - 87334445	Jul 13, 2019 (153)
94	ALFA	NC_000006.12 - 86624727	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)
rs59844736	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77333748, ss84918486	NC_000006.9:87391163:G:A	NC_000006.12:86624726:G:A	(self)
ss93510564, ss110486044, ss114699761, ss116590508, ss163904688, ss202134566, ss207376077, ss278907944, ss285455739, ss293656745	NC_000006.10:87391163:G:A	NC_000006.12:86624726:G:A	(self)
32947869, 18350558, 7943157, 19172161, 7013540, 8495263, 17121508, 4578573, 36591380, 18350558, 4079657, ss222521005, ss233571537, ss240608395, ss480606472, ss653332185, ss1073805528, ss1321123255, ss1430810115, ss1581778218, ss1616081127, ss1659075160, ss1804544650, ss1926453333, ss1970458080, ss2023870016, ss2152062219, ss2707680140, ss2841795891, ss2999486849, ss3347096339, ss3636800648, ss3733728675, ss3765319730, ss3785543328, ss3790883959, ss3795763096, ss3830053128, ss3838508300, ss3865104528, ss3911994767, ss5178622073, ss5640909908, ss5842597466, ss5969412977	NC_000006.11:87334444:G:A	NC_000006.12:86624726:G:A	(self)
43247630, 232509881, 3184252, 15898882, 50960889, 549008237, 14395060280, ss2285926642, ss3025728859, ss3648409183, ss3717702405, ss3808469930, ss3843956100, ss3959520881, ss4711630679, ss5269327708, ss5466870573, ss5555721695, ss5717123785, ss5807702762, ss5855459361, ss5884788873	NC_000006.12:86624726:G:A	NC_000006.12:86624726:G:A	(self)
ss10335839, ss11829989, ss17145230, ss22491276	NT_007299.12:25154615:G:A	NC_000006.12:86624726:G:A	(self)
ss2192103, ss5713622, ss6272389, ss12800368, ss42725676, ss98412509, ss106018326, ss142929804, ss144124165, ss157257610, ss160347132	NT_007299.13:25454278:G:A	NC_000006.12:86624726: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 rs1396255

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

rs1396255