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1.

rs2286047 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    12:120151435 (GRCh38)
    12:120589239 (GRCh37)
    Canonical SPDI:
    NC_000012.12:120151434:C:A,NC_000012.12:120151434:C:T
    Gene:
    GCN1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0./0 (HapMap)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000011/3 (TOPMED)
    A=0.000389/7 (TOMMO)
    HGVS:

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