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1.

rs3737085 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    20:3889758 (GRCh38)
    20:3870405 (GRCh37)
    Canonical SPDI:
    NC_000020.11:3889757:C:A,NC_000020.11:3889757:C:G,NC_000020.11:3889757:C:T
    Gene:
    PANK2 (Varview), PANK2-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.002726/76 (ALFA)
    G=0.00463/1 (Qatari)
    G=0.006321/1673 (TOPMED)
    G=0.006588/982 (GnomAD_genomes)
    G=0.009706/801 (ExAC)
    G=0.017958/115 (1000Genomes_30X)
    G=0.018171/91 (1000Genomes)
    G=0.057233/4432 (TOMMO)
    G=0.058196/169 (KOREAN)
    C=0.466667/14 (SGDP_PRJ)
    C=0.5/3 (Siberian)
    HGVS:

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