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1.

rs1920771 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    12:91051772 (GRCh38)
    12:91445549 (GRCh37)
    Canonical SPDI:
    NC_000012.12:91051771:T:C
    Gene:
    KERA (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.115131/2479 (ALFA)
    C=0.001092/2 (Korea1K)
    C=0.001451/24 (TOMMO)
    C=0.001711/5 (KOREAN)
    C=0.018333/11 (NorthernSweden)
    C=0.040996/158 (ALSPAC)
    C=0.041532/154 (TWINSUK)
    C=0.060937/273 (Estonian)
    C=0.061122/61 (GoNL)
    C=0.106481/23 (Qatari)
    C=0.117804/16444 (GnomAD)
    C=0.120862/605 (1000Genomes)
    C=0.123118/32588 (TOPMED)
    C=0.15/6 (GENOME_DK)
    T=0.435484/27 (SGDP_PRJ)
    T=0.5/1 (Siberian)
    HGVS:

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