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1.

rs62120712 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:2408488
    Gene:
    TMPRSS9 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.040625/182 (Estonian)
    C=0.043851/169 (ALSPAC)
    C=0.048813/181 (TWINSUK)
    C=0.05/30 (NorthernSweden)
    C=0.078741/19773 (GnomAD_exomes)
    C=0.08002/9655 (ExAC)
    C=0.086806/1129 (GoESP)
    C=0.091437/2864 (GnomAD)
    C=0.1004/12607 (TOPMED)
    C=0.141773/710 (1000Genomes)
    HGVS:
    NC_000019.10:g.2408488T>C, NC_000019.9:g.2408486T>C, XM_011527978.2:c.975T>C, NM_182973.2:c.873T>C, NM_182973.1:c.873T>C

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