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1.

rs3791516 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C
    Chromosome:
    2:239162357
    Gene:
    HDAC4 (GeneView)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by cluster
    Global MAF:
    A=0.0574/804 (ExAC)
    A=0.0874/11512 (GnomAD_exomes)
    A=0.0877/439 (1000Genomes)
    A=0.0907/11389 (TOPMED)
    A=0.0944/2915 (GnomAD)
    A=0.1059/408 (ALSPAC)
    A=0.1187/440 (TWINSUK)
    A=0.1210/542 (Estonian)
    HGVS:
    NC_000002.12:g.239162357T>A, NC_000002.12:g.239162357T>C, NC_000002.11:g.240084053T>A, NC_000002.11:g.240084053T>C, NG_009235.1:g.243591A>T, NG_009235.1:g.243591A>G

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