rs1990548 - SNP

Select item 19905481.

rs1990548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:91058164 (GRCh38)
12:91451941 (GRCh37)
Canonical SPDI:: NC_000012.12:91058163:T:C,NC_000012.12:91058163:T:G
Gene:: KERA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.195725/48031 (ALFA)
G=0.162325/162 (GoNL)
G=0.163333/98 (NorthernSweden)
G=0.174218/646 (TWINSUK)
G=0.177478/684 (ALSPAC)
G=0.193304/866 (Estonian)
G=0.20923/3507 (TOMMO)
G=0.225/9 (GENOME_DK)
G=0.235154/689 (KOREAN)
G=0.25/53 (Vietnamese)
G=0.251092/460 (Korea1K)
G=0.257614/203 (PRJEB37584)
G=0.263889/57 (Qatari)
G=0.326821/45419 (GnomAD)
G=0.344766/91256 (TOPMED)
T=0.359375/92 (SGDP_PRJ)
G=0.367895/1842 (1000Genomes)
G=0.399577/756 (HapMap)
G=0.428729/33735 (PAGE_STUDY)
T=0.5/8 (Siberian)
HGVS:: NC_000012.12:g.91058164T>C, NC_000012.12:g.91058164T>G, NC_000012.11:g.91451941T>C, NC_000012.11:g.91451941T>G, NG_021223.1:g.5191A>G, NG_021223.1:g.5191A>C, NM_007035.3:c.-429A>G, NM_007035.3:c.-429A>C

Select item 3865515882.

rs386551588 has merged into rs1990548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:91058164 (GRCh38)
12:91451941 (GRCh37)
Canonical SPDI:: NC_000012.12:91058163:T:C,NC_000012.12:91058163:T:G
Gene:: KERA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.195725/48031 (ALFA)
G=0.162325/162 (GoNL)
G=0.163333/98 (NorthernSweden)
G=0.174218/646 (TWINSUK)
G=0.177478/684 (ALSPAC)
G=0.193304/866 (Estonian)
G=0.20923/3507 (TOMMO)
G=0.225/9 (GENOME_DK)
G=0.235154/689 (KOREAN)
G=0.25/53 (Vietnamese)
G=0.251092/460 (Korea1K)
G=0.257614/203 (PRJEB37584)
G=0.263889/57 (Qatari)
G=0.326821/45419 (GnomAD)
G=0.344766/91256 (TOPMED)
T=0.359375/92 (SGDP_PRJ)
G=0.367895/1842 (1000Genomes)
G=0.399577/756 (HapMap)
G=0.428729/33735 (PAGE_STUDY)
T=0.5/8 (Siberian)
HGVS:: NC_000012.12:g.91058164T>C, NC_000012.12:g.91058164T>G, NC_000012.11:g.91451941T>C, NC_000012.11:g.91451941T>G, NG_021223.1:g.5191A>G, NG_021223.1:g.5191A>C, NM_007035.3:c.-429A>G, NM_007035.3:c.-429A>C

Select item 605972763.

rs60597276 has merged into rs1990548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:91058164 (GRCh38)
12:91451941 (GRCh37)
Canonical SPDI:: NC_000012.12:91058163:T:C,NC_000012.12:91058163:T:G
Gene:: KERA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.195725/48031 (ALFA)
G=0.162325/162 (GoNL)
G=0.163333/98 (NorthernSweden)
G=0.174218/646 (TWINSUK)
G=0.177478/684 (ALSPAC)
G=0.193304/866 (Estonian)
G=0.20923/3507 (TOMMO)
G=0.225/9 (GENOME_DK)
G=0.235154/689 (KOREAN)
G=0.25/53 (Vietnamese)
G=0.251092/460 (Korea1K)
G=0.257614/203 (PRJEB37584)
G=0.263889/57 (Qatari)
G=0.326821/45419 (GnomAD)
G=0.344766/91256 (TOPMED)
T=0.359375/92 (SGDP_PRJ)
G=0.367895/1842 (1000Genomes)
G=0.399577/756 (HapMap)
G=0.428729/33735 (PAGE_STUDY)
T=0.5/8 (Siberian)
HGVS:: NC_000012.12:g.91058164T>C, NC_000012.12:g.91058164T>G, NC_000012.11:g.91451941T>C, NC_000012.11:g.91451941T>G, NG_021223.1:g.5191A>G, NG_021223.1:g.5191A>C, NM_007035.3:c.-429A>G, NM_007035.3:c.-429A>C

dbSNP