Name: rs2621419
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.

rs2621419

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32773229 (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>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.312849 (82808/264690, TOPMED)
T=0.304090 (42558/139952, GnomAD)
T=0.31181 (24135/77402, PAGE_STUDY) (+ 16 more)
T=0.32876 (9290/28258, 14KJPN)
T=0.30807 (8313/26984, ALFA)
T=0.32930 (5519/16760, 8.3KJPN)
T=0.2986 (1912/6404, 1000G_30x)
T=0.2973 (1489/5008, 1000G)
T=0.2388 (1070/4480, Estonian)
T=0.2573 (754/2930, KOREAN)
T=0.3186 (504/1582, HapMap)
T=0.2566 (290/1130, Daghestan)
T=0.324 (323/998, GoNL)
T=0.250 (150/600, NorthernSweden)
T=0.187 (95/508, SGDP_PRJ)
T=0.264 (57/216, Qatari)
T=0.220 (47/214, Vietnamese)
T=0.33 (18/54, Siberian)
T=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 2 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	27078	T=0.30770	A=0.00000, C=0.69230
European	Sub	19950	T=0.29729	A=0.00000, C=0.70271
African	Sub	5138	T=0.3451	A=0.0000, C=0.6549
African Others	Sub	182	T=0.313	A=0.000, C=0.687
African American	Sub	4956	T=0.3462	A=0.0000, C=0.6538
Asian	Sub	114	T=0.246	A=0.000, C=0.754
East Asian	Sub	88	T=0.25	A=0.00, C=0.75
Other Asian	Sub	26	T=0.23	A=0.00, C=0.77
Latin American 1	Sub	146	T=0.377	A=0.000, C=0.623
Latin American 2	Sub	610	T=0.275	A=0.000, C=0.725
South Asian	Sub	100	T=0.29	A=0.00, C=0.71
Other	Sub	1020	T=0.3412	A=0.0000, C=0.6588

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	T=0.312849	C=0.687151
gnomAD - Genomes	Global	Study-wide	139952	T=0.304090	C=0.695910
gnomAD - Genomes	European	Sub	75800	T=0.29003	C=0.70997
gnomAD - Genomes	African	Sub	41914	T=0.33442	C=0.66558
gnomAD - Genomes	American	Sub	13644	T=0.30284	C=0.69716
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.2818	C=0.7182
gnomAD - Genomes	East Asian	Sub	3118	T=0.2527	C=0.7473
gnomAD - Genomes	Other	Sub	2154	T=0.3254	C=0.6746
The PAGE Study	Global	Study-wide	77402	T=0.31181	C=0.68819
The PAGE Study	AfricanAmerican	Sub	32210	T=0.33356	C=0.66644
The PAGE Study	Mexican	Sub	10586	T=0.29038	C=0.70962
The PAGE Study	Asian	Sub	8268	T=0.2912	C=0.7088
The PAGE Study	PuertoRican	Sub	7546	T=0.3432	C=0.6568
The PAGE Study	NativeHawaiian	Sub	4510	T=0.1936	C=0.8064
The PAGE Study	Cuban	Sub	4124	T=0.3383	C=0.6617
The PAGE Study	Dominican	Sub	3752	T=0.3380	C=0.6620
The PAGE Study	CentralAmerican	Sub	2408	T=0.2799	C=0.7201
The PAGE Study	SouthAmerican	Sub	1938	T=0.2766	C=0.7234
The PAGE Study	NativeAmerican	Sub	1232	T=0.2687	C=0.7313
The PAGE Study	SouthAsian	Sub	828	T=0.292	C=0.708
14KJPN	JAPANESE	Study-wide	28258	T=0.32876	C=0.67124
Allele Frequency Aggregator	Total	Global	26984	T=0.30807	A=0.00000, C=0.69193
Allele Frequency Aggregator	European	Sub	19874	T=0.29778	A=0.00000, C=0.70222
Allele Frequency Aggregator	African	Sub	5138	T=0.3451	A=0.0000, C=0.6549
Allele Frequency Aggregator	Other	Sub	1002	T=0.3413	A=0.0000, C=0.6587
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.275	A=0.000, C=0.725
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.377	A=0.000, C=0.623
Allele Frequency Aggregator	Asian	Sub	114	T=0.246	A=0.000, C=0.754
Allele Frequency Aggregator	South Asian	Sub	100	T=0.29	A=0.00, C=0.71
8.3KJPN	JAPANESE	Study-wide	16760	T=0.32930	C=0.67070
1000Genomes_30x	Global	Study-wide	6404	T=0.2986	C=0.7014
1000Genomes_30x	African	Sub	1786	T=0.3012	C=0.6988
1000Genomes_30x	Europe	Sub	1266	T=0.3088	C=0.6912
1000Genomes_30x	South Asian	Sub	1202	T=0.2596	C=0.7404
1000Genomes_30x	East Asian	Sub	1170	T=0.2880	C=0.7120
1000Genomes_30x	American	Sub	980	T=0.341	C=0.659
1000Genomes	Global	Study-wide	5008	T=0.2973	C=0.7027
1000Genomes	African	Sub	1322	T=0.2995	C=0.7005
1000Genomes	East Asian	Sub	1008	T=0.2946	C=0.7054
1000Genomes	Europe	Sub	1006	T=0.2913	C=0.7087
1000Genomes	South Asian	Sub	978	T=0.269	C=0.731
1000Genomes	American	Sub	694	T=0.346	C=0.654
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.2388	C=0.7612
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2573	A=0.0000, C=0.7427
HapMap	Global	Study-wide	1582	T=0.3186	C=0.6814
HapMap	African	Sub	682	T=0.342	C=0.658
HapMap	American	Sub	482	T=0.322	C=0.678
HapMap	Asian	Sub	250	T=0.336	C=0.664
HapMap	Europe	Sub	168	T=0.190	C=0.810
Genome-wide autozygosity in Daghestan	Global	Study-wide	1130	T=0.2566	C=0.7434
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.247	C=0.753
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.236	C=0.764
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.320	C=0.680
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.259	C=0.741
Genome-wide autozygosity in Daghestan	South Asian	Sub	92	T=0.29	C=0.71
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.19	C=0.81
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.324	C=0.676
Northern Sweden	ACPOP	Study-wide	600	T=0.250	C=0.750
SGDP_PRJ	Global	Study-wide	508	T=0.187	C=0.813
Qatari	Global	Study-wide	216	T=0.264	C=0.736
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.220	C=0.780
Siberian	Global	Study-wide	54	T=0.33	C=0.67
The Danish reference pan genome	Danish	Study-wide	40	T=0.35	C=0.65

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.32773229T>A
GRCh38.p14 chr 6	NC_000006.12:g.32773229T>C
GRCh37.p13 chr 6	NC_000006.11:g.32741006T>A
GRCh37.p13 chr 6	NC_000006.11:g.32741006T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4186806C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4186806C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4186912C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4186912C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3967524T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3967524T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3973120T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3973120T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.4017978C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.4017978C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.4023563C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.4023563C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4173378T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4173378T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4172676T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4172676T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4192575T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4192575T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4198195T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4198195T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4072601C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4072601C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4078186C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4078186C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.4079370C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.4079370C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.4029286C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.4029286C>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	T=	A	C
GRCh38.p14 chr 6	NC_000006.12:g.32773229=	NC_000006.12:g.32773229T>A	NC_000006.12:g.32773229T>C
GRCh37.p13 chr 6	NC_000006.11:g.32741006=	NC_000006.11:g.32741006T>A	NC_000006.11:g.32741006T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4186806C>T	NT_113891.3:g.4186806C>A	NT_113891.3:g.4186806=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4186912C>T	NT_113891.2:g.4186912C>A	NT_113891.2:g.4186912=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3967524=	NT_167248.2:g.3967524T>A	NT_167248.2:g.3967524T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3973120=	NT_167248.1:g.3973120T>A	NT_167248.1:g.3973120T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.4017978C>T	NT_167245.2:g.4017978C>A	NT_167245.2:g.4017978=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.4023563C>T	NT_167245.1:g.4023563C>A	NT_167245.1:g.4023563=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4173378=	NT_167249.2:g.4173378T>A	NT_167249.2:g.4173378T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4172676=	NT_167249.1:g.4172676T>A	NT_167249.1:g.4172676T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4192575=	NT_167246.2:g.4192575T>A	NT_167246.2:g.4192575T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4198195=	NT_167246.1:g.4198195T>A	NT_167246.1:g.4198195T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4072601C>T	NT_167247.2:g.4072601C>A	NT_167247.2:g.4072601=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4078186C>T	NT_167247.1:g.4078186C>A	NT_167247.1:g.4078186=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.4079370C>T	NT_167244.2:g.4079370C>A	NT_167244.2:g.4079370=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.4029286C>T	NT_167244.1:g.4029286C>A	NT_167244.1:g.4029286=

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#.

100 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3691184	Sep 28, 2001 (100)
2	BCM_SSAHASNP	ss10280227	Jul 11, 2003 (117)
3	WI_SSAHASNP	ss11779672	Jul 11, 2003 (117)
4	SI_MHC_SNP	ss12701792	Oct 31, 2003 (118)
5	SSAHASNP	ss22387876	Apr 05, 2004 (121)
6	ABI	ss44690186	Mar 15, 2006 (126)
7	AFFY	ss66523240	Dec 02, 2006 (127)
8	ILLUMINA	ss75269747	Dec 07, 2007 (129)
9	AFFY	ss76345744	Dec 07, 2007 (129)
10	HGSV	ss77348208	Dec 07, 2007 (129)
11	HGSV	ss78855637	Dec 07, 2007 (129)
12	KRIBB_YJKIM	ss81831575	Dec 15, 2007 (130)
13	HGSV	ss82401549	Dec 15, 2007 (130)
14	HGSV	ss85129668	Dec 15, 2007 (130)
15	BCMHGSC_JDW	ss93439099	Mar 24, 2008 (129)
16	BGI	ss105992103	Feb 04, 2009 (130)
17	1000GENOMES	ss109923136	Feb 13, 2009 (137)
18	1000GENOMES	ss114169620	Jan 25, 2009 (137)
19	ILLUMINA-UK	ss116406067	Feb 14, 2009 (130)
20	ENSEMBL	ss144154894	Dec 01, 2009 (131)
21	GMI	ss156772780	Dec 01, 2009 (131)
22	ILLUMINA	ss160564432	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss163373339	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss166465910	Jul 04, 2010 (132)
25	ILLUMINA	ss173410578	Jul 04, 2010 (135)
26	BUSHMAN	ss201653056	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss207327577	Jul 04, 2010 (132)
28	1000GENOMES	ss222320178	Jul 14, 2010 (137)
29	1000GENOMES	ss233417486	Jul 14, 2010 (137)
30	1000GENOMES	ss240484323	Jul 15, 2010 (137)
31	BL	ss254217117	May 09, 2011 (137)
32	GMI	ss278743022	May 04, 2012 (137)
33	GMI	ss285381813	Apr 25, 2013 (138)
34	PJP	ss293831985	May 09, 2011 (137)
35	ILLUMINA	ss410924625	Sep 17, 2011 (137)
36	ILLUMINA	ss480619890	May 04, 2012 (137)
37	EXOME_CHIP	ss491383649	May 04, 2012 (137)
38	ILLUMINA	ss537109986	Sep 08, 2015 (146)
39	TISHKOFF	ss559121697	Apr 25, 2013 (138)
40	SSMP	ss653053762	Apr 25, 2013 (138)
41	EVA-GONL	ss982788036	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1073513631	Aug 21, 2014 (142)
43	1000GENOMES	ss1319600940	Aug 21, 2014 (142)
44	HAMMER_LAB	ss1397451942	Sep 08, 2015 (146)
45	EVA_GENOME_DK	ss1581615994	Apr 01, 2015 (144)
46	EVA_DECODE	ss1592321658	Apr 01, 2015 (144)
47	EVA_SVP	ss1712852705	Apr 01, 2015 (144)
48	HAMMER_LAB	ss1804368698	Sep 08, 2015 (146)
49	WEILL_CORNELL_DGM	ss1926045978	Feb 12, 2016 (147)
50	ILLUMINA	ss1958895915	Feb 12, 2016 (147)
51	GENOMED	ss1970365262	Jul 19, 2016 (147)
52	JJLAB	ss2023658395	Sep 14, 2016 (149)
53	ILLUMINA	ss2094826479	Dec 20, 2016 (150)
54	ILLUMINA	ss2095180443	Dec 20, 2016 (150)
55	USC_VALOUEV	ss2151834532	Dec 20, 2016 (150)
56	HUMAN_LONGEVITY	ss2282996560	Dec 20, 2016 (150)
57	SYSTEMSBIOZJU	ss2626317250	Nov 08, 2017 (151)
58	ILLUMINA	ss2634434059	Nov 08, 2017 (151)
59	GRF	ss2707429273	Nov 08, 2017 (151)
60	AFFY	ss2985363947	Nov 08, 2017 (151)
61	AFFY	ss2985996389	Nov 08, 2017 (151)
62	SWEGEN	ss2998844013	Nov 08, 2017 (151)
63	ILLUMINA	ss3022606731	Nov 08, 2017 (151)
64	BIOINF_KMB_FNS_UNIBA	ss3025620780	Nov 08, 2017 (151)
65	ILLUMINA	ss3629512443	Oct 12, 2018 (152)
66	ILLUMINA	ss3638621992	Oct 12, 2018 (152)
67	ILLUMINA	ss3643563573	Oct 12, 2018 (152)
68	URBANLAB	ss3648323207	Oct 12, 2018 (152)
69	URBANLAB	ss3648323208	Oct 12, 2018 (152)
70	ILLUMINA	ss3653120806	Oct 12, 2018 (152)
71	ILLUMINA	ss3654129701	Oct 12, 2018 (152)
72	EGCUT_WGS	ss3666730879	Jul 13, 2019 (153)
73	EVA_DECODE	ss3716941817	Jul 13, 2019 (153)
74	ILLUMINA	ss3726334320	Jul 13, 2019 (153)
75	ACPOP	ss3733383531	Jul 13, 2019 (153)
76	EVA	ss3764848434	Jul 13, 2019 (153)
77	PAGE_CC	ss3771282918	Jul 13, 2019 (153)
78	PACBIO	ss3785437672	Jul 13, 2019 (153)
79	PACBIO	ss3790794806	Jul 13, 2019 (153)
80	PACBIO	ss3795673379	Jul 13, 2019 (153)
81	KHV_HUMAN_GENOMES	ss3808004828	Jul 13, 2019 (153)
82	EVA	ss3829852328	Apr 26, 2020 (154)
83	EVA	ss3838404005	Apr 26, 2020 (154)
84	EVA	ss3843848026	Apr 26, 2020 (154)
85	SGDP_PRJ	ss3864305280	Apr 26, 2020 (154)
86	KRGDB	ss3911083394	Apr 26, 2020 (154)
87	TOPMED	ss4698598634	Apr 26, 2021 (155)
88	TOMMO_GENOMICS	ss5176915417	Apr 26, 2021 (155)
89	1000G_HIGH_COVERAGE	ss5267976626	Oct 13, 2022 (156)
90	EVA	ss5364782513	Oct 13, 2022 (156)
91	HUGCELL_USP	ss5465696966	Oct 13, 2022 (156)
92	EVA	ss5508439380	Oct 13, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5553652486	Oct 13, 2022 (156)
94	SANFORD_IMAGENETICS	ss5640133833	Oct 13, 2022 (156)
95	TOMMO_GENOMICS	ss5714787096	Oct 13, 2022 (156)
96	YY_MCH	ss5807346782	Oct 13, 2022 (156)
97	EVA	ss5842052499	Oct 13, 2022 (156)
98	EVA	ss5855297395	Oct 13, 2022 (156)
99	EVA	ss5883281246	Oct 13, 2022 (156)
100	EVA	ss5968622334	Oct 13, 2022 (156)
101	1000Genomes	NC_000006.11 - 32741006	Oct 12, 2018 (152)
102	1000Genomes_30x	NC_000006.12 - 32773229	Oct 13, 2022 (156)
103	Genome-wide autozygosity in Daghestan	NC_000006.10 - 32848984	Apr 26, 2020 (154)
104	Genetic variation in the Estonian population	NC_000006.11 - 32741006	Oct 12, 2018 (152)
105	The Danish reference pan genome	NC_000006.11 - 32741006	Apr 26, 2020 (154)
106	gnomAD - Genomes	NC_000006.12 - 32773229	Apr 26, 2021 (155)
107	Genome of the Netherlands Release 5	NC_000006.11 - 32741006	Apr 26, 2020 (154)
108	HapMap	NC_000006.12 - 32773229	Apr 26, 2020 (154)
109	KOREAN population from KRGDB	NC_000006.11 - 32741006	Apr 26, 2020 (154)
110	Northern Sweden	NC_000006.11 - 32741006	Jul 13, 2019 (153)
111	The PAGE Study	NC_000006.12 - 32773229	Jul 13, 2019 (153)
112	Qatari	NC_000006.11 - 32741006	Apr 26, 2020 (154)
113	SGDP_PRJ	NC_000006.11 - 32741006	Apr 26, 2020 (154)
114	Siberian	NC_000006.11 - 32741006	Apr 26, 2020 (154)
115	8.3KJPN	NC_000006.11 - 32741006	Apr 26, 2021 (155)
116	14KJPN	NC_000006.12 - 32773229	Oct 13, 2022 (156)
117	TopMed	NC_000006.12 - 32773229	Apr 26, 2021 (155)
118	A Vietnamese Genetic Variation Database	NC_000006.11 - 32741006	Jul 13, 2019 (153)
119	ALFA	NC_000006.12 - 32773229	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)
rs6457668	Aug 27, 2003 (117)
rs58218427	May 24, 2008 (130)
rs59543933	Feb 26, 2009 (130)
rs112458936	Sep 17, 2011 (135)
rs115252761	May 04, 2012 (137)
rs117101588	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
18260788, ss3911083394	NC_000006.11:32741005:T:A	NC_000006.12:32773228:T:A	(self)
10986840649	NC_000006.12:32773228:T:A	NC_000006.12:32773228:T:A	(self)
ss77348208, ss78855637, ss82401549, ss85129668	NC_000006.9:32848983:T:C	NC_000006.12:32773228:T:C	(self)
426589, ss12701792, ss93439099, ss109923136, ss114169620, ss116406067, ss160564432, ss163373339, ss166465910, ss201653056, ss207327577, ss254217117, ss278743022, ss285381813, ss293831985, ss480619890, ss1397451942, ss1592321658, ss1712852705, ss3643563573	NC_000006.10:32848983:T:C	NC_000006.12:32773228:T:C	(self)
31369858, 12469127, 7780933, 7782418, 18260788, 6668396, 8087908, 16322260, 4350886, 34884724, 3881063, ss222320178, ss233417486, ss240484323, ss491383649, ss537109986, ss559121697, ss653053762, ss982788036, ss1073513631, ss1319600940, ss1581615994, ss1804368698, ss1926045978, ss1958895915, ss1970365262, ss2023658395, ss2094826479, ss2095180443, ss2151834532, ss2626317250, ss2634434059, ss2707429273, ss2985363947, ss2985996389, ss2998844013, ss3022606731, ss3629512443, ss3638621992, ss3653120806, ss3654129701, ss3666730879, ss3733383531, ss3764848434, ss3785437672, ss3790794806, ss3795673379, ss3829852328, ss3838404005, ss3864305280, ss3911083394, ss5176915417, ss5364782513, ss5508439380, ss5640133833, ss5842052499, ss5968622334	NC_000006.11:32741005:T:C	NC_000006.12:32773228:T:C	(self)
41178421, 221446425, 3103372, 504387, 48624200, 535976192, 10986840649, ss2282996560, ss3025620780, ss3648323207, ss3648323208, ss3716941817, ss3726334320, ss3771282918, ss3808004828, ss3843848026, ss4698598634, ss5267976626, ss5465696966, ss5553652486, ss5714787096, ss5807346782, ss5855297395, ss5883281246	NC_000006.12:32773228:T:C	NC_000006.12:32773228:T:C	(self)
ss10280227, ss11779672, ss22387876	NT_007592.13:23538270:T:C	NC_000006.12:32773228:T:C	(self)
ss3691184, ss44690186, ss66523240, ss75269747, ss76345744, ss81831575, ss105992103, ss144154894, ss156772780, ss173410578, ss410924625	NT_007592.15:32681005:T:C	NC_000006.12:32773228:T:C	(self)

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

2 citations for rs2621419

PMID	Title	Author	Year	Journal
20466734	Refining the association of MHC with multiple sclerosis in African Americans.	McElroy JP et al.	2010	Human molecular genetics
33235445	A Genome-Wide Association Study in Early COPD: Identification of One Major Susceptibility Loci.	Lee YJ et al.	2020	International journal of chronic obstructive pulmonary disease

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

rs2621419