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Select item 22685801.

rs2268580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:91051777 (GRCh38)
12:91445554 (GRCh37)
Canonical SPDI:: NC_000012.12:91051776:A:C,NC_000012.12:91051776:A:G,NC_000012.12:91051776:A:T
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01192/215 (ALFA)
G=0.0178/66 (TWINSUK)
G=0.02305/23 (GoNL)
G=0.02478/111 (Estonian)
G=0.02621/101 (ALSPAC)
G=0.03241/7 (Qatari)
G=0.035/21 (NorthernSweden)
G=0.0625/13 (HapMap)
G=0.09635/483 (1000Genomes)
G=0.11934/2000 (TOMMO)
G=0.13652/400 (KOREAN)
G=0.13679/29 (Vietnamese)
G=0.14629/268 (Korea1K)
A=0.44262/54 (SGDP_PRJ)
A=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.91051777A>C, NC_000012.12:g.91051777A>G, NC_000012.12:g.91051777A>T, NC_000012.11:g.91445554A>C, NC_000012.11:g.91445554A>G, NC_000012.11:g.91445554A>T, NG_021223.1:g.11578T>G, NG_021223.1:g.11578T>C, NG_021223.1:g.11578T>A

dbSNP