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1.

rs2701166 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:91051526 (GRCh38)
    12:91445303 (GRCh37)
    Canonical SPDI:
    NC_000012.12:91051525:G:A
    Gene:
    KERA (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.232881/39369 (ALFA)
    A=0.002513/42 (TOMMO)
    A=0.004107/12 (KOREAN)
    A=0.005459/10 (Korea1K)
    A=0.034091/21 (Vietnamese)
    A=0.096195/182 (HapMap)
    A=0.111805/560 (1000Genomes)
    A=0.166667/36 (Qatari)
    A=0.167868/44433 (TOPMED)
    A=0.169014/192 (Daghestan)
    A=0.184258/25704 (GnomAD)
    A=0.191474/22901 (ExAC)
    A=0.19148/2490 (GoESP)
    A=0.194265/48409 (GnomAD_exomes)
    A=0.23221/124 (MGP)
    A=0.249107/1116 (Estonian)
    A=0.252505/252 (GoNL)
    A=0.256098/987 (ALSPAC)
    A=0.266451/988 (TWINSUK)
    A=0.281667/169 (NorthernSweden)
    A=0.289474/88 (FINRISK)
    A=0.3/12 (GENOME_DK)
    G=0.409091/9 (Siberian)
    G=0.447761/60 (SGDP_PRJ)
    HGVS:

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