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1.

rs10512248 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    9:95497421 (GRCh38)
    9:98259703 (GRCh37)
    Canonical SPDI:
    NC_000009.12:95497420:T:A,NC_000009.12:95497420:T:C,NC_000009.12:95497420:T:G
    Gene:
    PTCH1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    G=0.161342/101 (Chileans)
    G=0.258122/19990 (TOMMO)
    G=0.286667/172 (NorthernSweden)
    G=0.289847/531 (Korea1K)
    G=0.292683/24 (PRJEB36033)
    G=0.296928/870 (KOREAN)
    G=0.300664/2175 (Korea4K)
    G=0.300926/65 (Vietnamese)
    G=0.310185/67 (Qatari)
    G=0.325316/257 (PRJEB37584)
    G=0.329872/1652 (1000Genomes)
    G=0.330418/2116 (1000Genomes_30X)
    G=0.331985/1231 (TWINSUK)
    G=0.341204/1315 (ALSPAC)
    G=0.349472/397 (Daghestan)
    G=0.35485/27926 (PAGE_STUDY)
    G=0.355711/355 (GoNL)
    G=0.364778/96553 (TOPMED)
    T=0.381579/116 (SGDP_PRJ)
    G=0.393763/745 (HapMap)
    G=0.400223/1793 (Estonian)
    G=0.425/17 (GENOME_DK)
    T=0.441176/15 (Siberian)
    HGVS:

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