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Select item 20417111.

rs2041711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:91054109 (GRCh38)
12:91447886 (GRCh37)
Canonical SPDI:: NC_000012.12:91054108:A:C,NC_000012.12:91054108:A:T
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.287401/5429 (ALFA)
A=0.160714/9 (Siberian)
A=0.175/105 (NorthernSweden)
A=0.192149/93 (SGDP_PRJ)
A=0.200647/744 (TWINSUK)
A=0.202647/781 (ALSPAC)
A=0.209537/3511 (TOMMO)
A=0.219643/984 (Estonian)
A=0.224449/224 (GoNL)
A=0.225/9 (GENOME_DK)
A=0.235154/689 (KOREAN)
A=0.251638/461 (Korea1K)
A=0.257009/55 (Vietnamese)
A=0.300926/65 (Qatari)
A=0.344748/47949 (GnomAD)
A=0.360648/95460 (TOPMED)
A=0.374922/1878 (1000Genomes)
A=0.381098/125 (HapMap)
HGVS:: NC_000012.12:g.91054109A>C, NC_000012.12:g.91054109A>T, NC_000012.11:g.91447886A>C, NC_000012.11:g.91447886A>T, NG_021223.1:g.9246T>G, NG_021223.1:g.9246T>A

dbSNP