rs2268579 - SNP

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Select item 22685791.

rs2268579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91051937 (GRCh38)
12:91445714 (GRCh37)
Canonical SPDI:: NC_000012.12:91051936:T:C
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.044246/2826 (ALFA)
C=0./0 (PRJEB36033)
C=0.017799/66 (TWINSUK)
C=0.023046/23 (GoNL)
C=0.024777/111 (Estonian)
C=0.026207/101 (ALSPAC)
C=0.032407/7 (Qatari)
C=0.035/21 (NorthernSweden)
C=0.04455/6211 (GnomAD)
C=0.056062/14839 (TOPMED)
C=0.086931/149 (HapMap)
C=0.100639/504 (1000Genomes)
C=0.119408/2001 (TOMMO)
C=0.13686/401 (KOREAN)
C=0.140187/30 (Vietnamese)
C=0.146288/268 (Korea1K)
C=0.178914/112 (Chileans)
T=0.4375/49 (SGDP_PRJ)
T=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.91051937T>C, NC_000012.11:g.91445714T>C, NG_021223.1:g.11418A>G

Select item 565310272.

rs56531027 has merged into rs2268579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91051937 (GRCh38)
12:91445714 (GRCh37)
Canonical SPDI:: NC_000012.12:91051936:T:C
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.044246/2826 (ALFA)
C=0./0 (PRJEB36033)
C=0.017799/66 (TWINSUK)
C=0.023046/23 (GoNL)
C=0.024777/111 (Estonian)
C=0.026207/101 (ALSPAC)
C=0.032407/7 (Qatari)
C=0.035/21 (NorthernSweden)
C=0.04455/6211 (GnomAD)
C=0.056062/14839 (TOPMED)
C=0.086931/149 (HapMap)
C=0.100639/504 (1000Genomes)
C=0.119408/2001 (TOMMO)
C=0.13686/401 (KOREAN)
C=0.140187/30 (Vietnamese)
C=0.146288/268 (Korea1K)
C=0.178914/112 (Chileans)
T=0.4375/49 (SGDP_PRJ)
T=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.91051937T>C, NC_000012.11:g.91445714T>C, NG_021223.1:g.11418A>G