Name: rs6457615
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.

rs6457615

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32684187 (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: C=0.124655 (32995/264690, TOPMED)
C=0.137916 (18785/136206, GnomAD)
C=0.05598 (1582/28258, 14KJPN) (+ 13 more)
C=0.12770 (2450/19186, ALFA)
C=0.05628 (943/16756, 8.3KJPN)
C=0.1171 (750/6404, 1000G_30x)
C=0.1286 (644/5008, 1000G)
C=0.0883 (258/2922, KOREAN)
C=0.121 (121/998, GoNL)
C=0.093 (56/600, NorthernSweden)
C=0.074 (16/216, Qatari)
T=0.47 (44/94, SGDP_PRJ)
C=0.07 (6/86, HapMap)
C=0.03 (1/40, GENOME_DK)
T=0.50 (6/12, Siberian)
C=0.50 (6/12, 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	19186	T=0.87230	C=0.12770
European	Sub	14346	T=0.87690	C=0.12310
African	Sub	3034	T=0.8378	C=0.1622
African Others	Sub	120	T=0.775	C=0.225
African American	Sub	2914	T=0.8404	C=0.1596
Asian	Sub	114	T=0.947	C=0.053
East Asian	Sub	88	T=0.94	C=0.06
Other Asian	Sub	26	T=0.96	C=0.04
Latin American 1	Sub	154	T=0.870	C=0.130
Latin American 2	Sub	664	T=0.898	C=0.102
South Asian	Sub	112	T=0.920	C=0.080
Other	Sub	762	T=0.883	C=0.117

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.875345	C=0.124655
gnomAD - Genomes	Global	Study-wide	136206	T=0.862084	C=0.137916
gnomAD - Genomes	European	Sub	74186	T=0.86696	C=0.13304
gnomAD - Genomes	African	Sub	40606	T=0.84057	C=0.15943
gnomAD - Genomes	American	Sub	13208	T=0.87901	C=0.12099
gnomAD - Genomes	Ashkenazi Jewish	Sub	3228	T=0.8606	C=0.1394
gnomAD - Genomes	East Asian	Sub	2886	T=0.9584	C=0.0416
gnomAD - Genomes	Other	Sub	2092	T=0.8695	C=0.1305
14KJPN	JAPANESE	Study-wide	28258	T=0.94402	C=0.05598
Allele Frequency Aggregator	Total	Global	19186	T=0.87230	C=0.12770
Allele Frequency Aggregator	European	Sub	14346	T=0.87690	C=0.12310
Allele Frequency Aggregator	African	Sub	3034	T=0.8378	C=0.1622
Allele Frequency Aggregator	Other	Sub	762	T=0.883	C=0.117
Allele Frequency Aggregator	Latin American 2	Sub	664	T=0.898	C=0.102
Allele Frequency Aggregator	Latin American 1	Sub	154	T=0.870	C=0.130
Allele Frequency Aggregator	Asian	Sub	114	T=0.947	C=0.053
Allele Frequency Aggregator	South Asian	Sub	112	T=0.920	C=0.080
8.3KJPN	JAPANESE	Study-wide	16756	T=0.94372	C=0.05628
1000Genomes_30x	Global	Study-wide	6404	T=0.8829	C=0.1171
1000Genomes_30x	African	Sub	1786	T=0.8337	C=0.1663
1000Genomes_30x	Europe	Sub	1266	T=0.8673	C=0.1327
1000Genomes_30x	South Asian	Sub	1202	T=0.9118	C=0.0882
1000Genomes_30x	East Asian	Sub	1170	T=0.9462	C=0.0538
1000Genomes_30x	American	Sub	980	T=0.882	C=0.118
1000Genomes	Global	Study-wide	5008	T=0.8714	C=0.1286
1000Genomes	African	Sub	1322	T=0.8147	C=0.1853
1000Genomes	East Asian	Sub	1008	T=0.9266	C=0.0734
1000Genomes	Europe	Sub	1006	T=0.8519	C=0.1481
1000Genomes	South Asian	Sub	978	T=0.910	C=0.090
1000Genomes	American	Sub	694	T=0.873	C=0.127
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9117	C=0.0883
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.879	C=0.121
Northern Sweden	ACPOP	Study-wide	600	T=0.907	C=0.093
Qatari	Global	Study-wide	216	T=0.926	C=0.074
SGDP_PRJ	Global	Study-wide	94	T=0.47	C=0.53
HapMap	Global	Study-wide	86	T=0.93	C=0.07
HapMap	Asian	Sub	86	T=0.93	C=0.07
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
Siberian	Global	Study-wide	12	T=0.50	C=0.50

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.32684187T>C
GRCh37.p13 chr 6	NC_000006.11:g.32651964T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4097510T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4097616T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3878474T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3884070T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3921404T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3926989T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4084149T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4083447T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4103721T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4109341T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3976051T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3981636T>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	T=	C
GRCh38.p14 chr 6	NC_000006.12:g.32684187=	NC_000006.12:g.32684187T>C
GRCh37.p13 chr 6	NC_000006.11:g.32651964=	NC_000006.11:g.32651964T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4097510=	NT_113891.3:g.4097510T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4097616=	NT_113891.2:g.4097616T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3878474=	NT_167248.2:g.3878474T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3884070=	NT_167248.1:g.3884070T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3921404=	NT_167245.2:g.3921404T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3926989=	NT_167245.1:g.3926989T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4084149=	NT_167249.2:g.4084149T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4083447=	NT_167249.1:g.4083447T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4103721=	NT_167246.2:g.4103721T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4109341=	NT_167246.1:g.4109341T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3976051=	NT_167247.2:g.3976051T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3981636=	NT_167247.1:g.3981636T>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#.

71 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10338799	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss11832610	Jul 11, 2003 (116)
3	SSAHASNP	ss22496652	Apr 05, 2004 (123)
4	FHCRC	ss23139297	Sep 20, 2004 (126)
5	ABI	ss42858379	Mar 10, 2006 (126)
6	UWGC	ss50395943	Mar 14, 2006 (126)
7	HGSV	ss78533518	Dec 06, 2007 (129)
8	HUMANGENOME_JCVI	ss98383800	Feb 05, 2009 (130)
9	1000GENOMES	ss109919333	Feb 13, 2009 (137)
10	ENSEMBL	ss142654839	Dec 01, 2009 (131)
11	ILLUMINA	ss160775585	Dec 01, 2009 (131)
12	BCM-HGSC-SUB	ss207521243	Jul 04, 2010 (135)
13	1000GENOMES	ss211818181	Jul 14, 2010 (137)
14	1000GENOMES	ss222317488	Jul 14, 2010 (137)
15	1000GENOMES	ss233414921	Jul 14, 2010 (137)
16	1000GENOMES	ss240481898	Jul 15, 2010 (137)
17	GMI	ss278740562	May 04, 2012 (137)
18	PJP	ss293830824	May 09, 2011 (137)
19	ILLUMINA	ss482256713	Sep 08, 2015 (146)
20	ILLUMINA	ss537351157	Sep 08, 2015 (146)
21	TISHKOFF	ss559120231	Apr 25, 2013 (138)
22	SSMP	ss653051292	Apr 25, 2013 (138)
23	ILLUMINA	ss834167417	Sep 08, 2015 (146)
24	EVA-GONL	ss982785167	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1073512175	Aug 21, 2014 (142)
26	1000GENOMES	ss1319596544	Aug 21, 2014 (142)
27	EVA_GENOME_DK	ss1581614275	Apr 01, 2015 (144)
28	EVA_DECODE	ss1592319989	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1804366825	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1926042763	Feb 12, 2016 (147)
31	ILLUMINA	ss1958894596	Feb 12, 2016 (147)
32	JJLAB	ss2023655859	Sep 14, 2016 (149)
33	USC_VALOUEV	ss2151831401	Dec 20, 2016 (150)
34	HUMAN_LONGEVITY	ss2282991522	Dec 20, 2016 (150)
35	ILLUMINA	ss2634433284	Nov 08, 2017 (151)
36	GRF	ss2707426073	Nov 08, 2017 (151)
37	SWEGEN	ss2998839543	Nov 08, 2017 (151)
38	ILLUMINA	ss3022605397	Nov 08, 2017 (151)
39	BIOINF_KMB_FNS_UNIBA	ss3025618685	Nov 08, 2017 (151)
40	CSHL	ss3346902939	Nov 08, 2017 (151)
41	ILLUMINA	ss3632351389	Oct 12, 2018 (152)
42	ILLUMINA	ss3636781180	Oct 12, 2018 (152)
43	URBANLAB	ss3648321094	Oct 12, 2018 (152)
44	ILLUMINA	ss3653119120	Oct 12, 2018 (152)
45	EVA_DECODE	ss3716937794	Jul 13, 2019 (153)
46	ACPOP	ss3733380322	Jul 13, 2019 (153)
47	EVA	ss3764845428	Jul 13, 2019 (153)
48	PACBIO	ss3785436655	Jul 13, 2019 (153)
49	PACBIO	ss3790793827	Jul 13, 2019 (153)
50	PACBIO	ss3795672388	Jul 13, 2019 (153)
51	KHV_HUMAN_GENOMES	ss3808001540	Jul 13, 2019 (153)
52	EVA	ss3829849421	Apr 26, 2020 (154)
53	EVA	ss3838402001	Apr 26, 2020 (154)
54	EVA	ss3843845839	Apr 26, 2020 (154)
55	SGDP_PRJ	ss3864300781	Apr 26, 2020 (154)
56	KRGDB	ss3911078757	Apr 26, 2020 (154)
57	GNOMAD	ss4139496753	Apr 26, 2021 (155)
58	TOPMED	ss4698581325	Apr 26, 2021 (155)
59	TOMMO_GENOMICS	ss5176909159	Apr 26, 2021 (155)
60	1000G_HIGH_COVERAGE	ss5267971573	Oct 13, 2022 (156)
61	EVA	ss5315144470	Oct 13, 2022 (156)
62	HUGCELL_USP	ss5465693484	Oct 13, 2022 (156)
63	EVA	ss5508436852	Oct 13, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5553646715	Oct 13, 2022 (156)
65	SANFORD_IMAGENETICS	ss5640129404	Oct 13, 2022 (156)
66	TOMMO_GENOMICS	ss5714779150	Oct 13, 2022 (156)
67	YY_MCH	ss5807342682	Oct 13, 2022 (156)
68	EVA	ss5842049155	Oct 13, 2022 (156)
69	EVA	ss5855294963	Oct 13, 2022 (156)
70	EVA	ss5883276582	Oct 13, 2022 (156)
71	EVA	ss5968618897	Oct 13, 2022 (156)
72	1000Genomes	NC_000006.11 - 32651964	Oct 12, 2018 (152)
73	1000Genomes_30x	NC_000006.12 - 32684187	Oct 13, 2022 (156)
74	The Danish reference pan genome	NC_000006.11 - 32651964	Apr 26, 2020 (154)
75	gnomAD - Genomes	NC_000006.12 - 32684187	Apr 26, 2021 (155)
76	Genome of the Netherlands Release 5	NC_000006.11 - 32651964	Apr 26, 2020 (154)
77	HapMap	NC_000006.12 - 32684187	Apr 26, 2020 (154)
78	KOREAN population from KRGDB	NC_000006.11 - 32651964	Apr 26, 2020 (154)
79	Northern Sweden	NC_000006.11 - 32651964	Jul 13, 2019 (153)
80	Qatari	NC_000006.11 - 32651964	Apr 26, 2020 (154)
81	SGDP_PRJ	NC_000006.11 - 32651964	Apr 26, 2020 (154)
82	Siberian	NC_000006.11 - 32651964	Apr 26, 2020 (154)
83	8.3KJPN	NC_000006.11 - 32651964	Apr 26, 2021 (155)
84	14KJPN	NC_000006.12 - 32684187	Oct 13, 2022 (156)
85	TopMed	NC_000006.12 - 32684187	Apr 26, 2021 (155)
86	ALFA	NC_000006.12 - 32684187	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)
rs13216779	Sep 24, 2004 (123)
rs17212315	Mar 10, 2006 (126)
rs35091121	May 23, 2006 (127)
rs112758585	Sep 17, 2011 (135)
rs115180522	May 04, 2012 (137)
rs116867042	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78533518	NC_000006.9:32759941:T:C	NC_000006.12:32684186:T:C	(self)
ss109919333, ss207521243, ss211818181, ss278740562, ss293830824, ss1592319989	NC_000006.10:32759941:T:C	NC_000006.12:32684186:T:C	(self)
31365330, 7779214, 7779661, 18256151, 6665187, 8084693, 16317761, 4347755, 34878466, ss222317488, ss233414921, ss240481898, ss482256713, ss537351157, ss559120231, ss653051292, ss834167417, ss982785167, ss1073512175, ss1319596544, ss1581614275, ss1804366825, ss1926042763, ss1958894596, ss2023655859, ss2151831401, ss2634433284, ss2707426073, ss2998839543, ss3022605397, ss3346902939, ss3632351389, ss3636781180, ss3653119120, ss3733380322, ss3764845428, ss3785436655, ss3790793827, ss3795672388, ss3829849421, ss3838402001, ss3864300781, ss3911078757, ss5176909159, ss5315144470, ss5508436852, ss5640129404, ss5842049155, ss5968618897	NC_000006.11:32651963:T:C	NC_000006.12:32684186:T:C	(self)
41172650, 221427980, 3102590, 48616254, 535958883, 6639897336, ss2282991522, ss3025618685, ss3648321094, ss3716937794, ss3808001540, ss3843845839, ss4139496753, ss4698581325, ss5267971573, ss5465693484, ss5553646715, ss5714779150, ss5807342682, ss5855294963, ss5883276582	NC_000006.12:32684186:T:C	NC_000006.12:32684186:T:C	(self)
ss10338799, ss11832610, ss22496652	NT_007592.13:23448655:T:C	NC_000006.12:32684186:T:C	(self)
ss23139297, ss42858379, ss50395943, ss98383800, ss142654839, ss160775585	NT_007592.15:32591963:T:C	NC_000006.12:32684186: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 rs6457615

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6457615