rs1812014 - SNP

Select item 18120141.

rs1812014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:32667293 (GRCh38)
6:32635070 (GRCh37)
Canonical SPDI:: NC_000006.12:32667292:T:A,NC_000006.12:32667292:T:C
Gene:: HLA-DQB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.385705/2504 (ALFA)
A=0.230461/230 (GoNL)
T=0.272124/123 (SGDP_PRJ)
T=0.409091/9 (Siberian)
T=0.420598/111328 (TOPMED)
T=0.426962/1251 (KOREAN)
T=0.432215/1881 (Estonian)
T=0.434416/2782 (1000Genomes)
T=0.49537/107 (Qatari)
HGVS:: NC_000006.12:g.32667293T>A, NC_000006.12:g.32667293T>C, NC_000006.11:g.32635070T>A, NC_000006.11:g.32635070T>C, NT_113891.3:g.4080612A>T, NT_113891.3:g.4080612A>C, NT_113891.2:g.4080718A>T, NT_113891.2:g.4080718A>C, NG_029922.1:g.4394T>A, NG_029922.1:g.4394T>G, NT_167248.2:g.3861576A>T, NT_167248.2:g.3861576A>C, NT_167248.1:g.3867172A>T, NT_167248.1:g.3867172A>C, NT_167245.2:g.3908146A>T, NT_167245.2:g.3908146A>C, NT_167245.1:g.3913731A>T, NT_167245.1:g.3913731A>C, NT_167249.2:g.4064548A>T, NT_167249.2:g.4064548A>C, NT_167249.1:g.4063846A>T, NT_167249.1:g.4063846A>C, NT_167246.2:g.4085118A>T, NT_167246.2:g.4085118A>C, NT_167246.1:g.4090738A>T, NT_167246.1:g.4090738A>C, NT_167247.2:g.3963789A>T, NT_167247.2:g.3963789A>C, NT_167247.1:g.3969374A>T, NT_167247.1:g.3969374A>C

Select item 1168484212.

rs116848421 has merged into rs1812014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:32667293 (GRCh38)
6:32635070 (GRCh37)
Canonical SPDI:: NC_000006.12:32667292:T:A,NC_000006.12:32667292:T:C
Gene:: HLA-DQB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.385705/2504 (ALFA)
A=0.230461/230 (GoNL)
T=0.272124/123 (SGDP_PRJ)
T=0.409091/9 (Siberian)
T=0.420598/111328 (TOPMED)
T=0.426962/1251 (KOREAN)
T=0.432215/1881 (Estonian)
T=0.434416/2782 (1000Genomes)
T=0.49537/107 (Qatari)
HGVS:: NC_000006.12:g.32667293T>A, NC_000006.12:g.32667293T>C, NC_000006.11:g.32635070T>A, NC_000006.11:g.32635070T>C, NT_113891.3:g.4080612A>T, NT_113891.3:g.4080612A>C, NT_113891.2:g.4080718A>T, NT_113891.2:g.4080718A>C, NG_029922.1:g.4394T>A, NG_029922.1:g.4394T>G, NT_167248.2:g.3861576A>T, NT_167248.2:g.3861576A>C, NT_167248.1:g.3867172A>T, NT_167248.1:g.3867172A>C, NT_167245.2:g.3908146A>T, NT_167245.2:g.3908146A>C, NT_167245.1:g.3913731A>T, NT_167245.1:g.3913731A>C, NT_167249.2:g.4064548A>T, NT_167249.2:g.4064548A>C, NT_167249.1:g.4063846A>T, NT_167249.1:g.4063846A>C, NT_167246.2:g.4085118A>T, NT_167246.2:g.4085118A>C, NT_167246.1:g.4090738A>T, NT_167246.1:g.4090738A>C, NT_167247.2:g.3963789A>T, NT_167247.2:g.3963789A>C, NT_167247.1:g.3969374A>T, NT_167247.1:g.3969374A>C

Select item 92745663.

rs9274566 has merged into rs1812014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:32667293 (GRCh38)
6:32635070 (GRCh37)
Canonical SPDI:: NC_000006.12:32667292:T:A,NC_000006.12:32667292:T:C
Gene:: HLA-DQB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.385705/2504 (ALFA)
A=0.230461/230 (GoNL)
T=0.272124/123 (SGDP_PRJ)
T=0.409091/9 (Siberian)
T=0.420598/111328 (TOPMED)
T=0.426962/1251 (KOREAN)
T=0.432215/1881 (Estonian)
T=0.434416/2782 (1000Genomes)
T=0.49537/107 (Qatari)
HGVS:: NC_000006.12:g.32667293T>A, NC_000006.12:g.32667293T>C, NC_000006.11:g.32635070T>A, NC_000006.11:g.32635070T>C, NT_113891.3:g.4080612A>T, NT_113891.3:g.4080612A>C, NT_113891.2:g.4080718A>T, NT_113891.2:g.4080718A>C, NG_029922.1:g.4394T>A, NG_029922.1:g.4394T>G, NT_167248.2:g.3861576A>T, NT_167248.2:g.3861576A>C, NT_167248.1:g.3867172A>T, NT_167248.1:g.3867172A>C, NT_167245.2:g.3908146A>T, NT_167245.2:g.3908146A>C, NT_167245.1:g.3913731A>T, NT_167245.1:g.3913731A>C, NT_167249.2:g.4064548A>T, NT_167249.2:g.4064548A>C, NT_167249.1:g.4063846A>T, NT_167249.1:g.4063846A>C, NT_167246.2:g.4085118A>T, NT_167246.2:g.4085118A>C, NT_167246.1:g.4090738A>T, NT_167246.1:g.4090738A>C, NT_167247.2:g.3963789A>T, NT_167247.2:g.3963789A>C, NT_167247.1:g.3969374A>T, NT_167247.1:g.3969374A>C

dbSNP