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1.

rs999782 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:84061542 (GRCh38)
    16:84095147 (GRCh37)
    Canonical SPDI:
    NC_000016.10:84061541:A:G
    Gene:
    MBTPS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.395761/12920 (ALFA)
    A=0.264444/119 (SGDP_PRJ)
    A=0.3/12 (Siberian)
    A=0.325/13 (GENOME_DK)
    A=0.332437/5572 (TOMMO)
    A=0.33342/1285 (ALSPAC)
    A=0.3363/1247 (TWINSUK)
    A=0.344689/344 (GoNL)
    A=0.357338/1047 (KOREAN)
    A=0.372817/683 (Korea1K)
    A=0.373333/224 (NorthernSweden)
    A=0.392634/1759 (Estonian)
    G=0.434579/93 (Vietnamese)
    A=0.438546/61350 (GnomAD)
    A=0.445128/117821 (TOPMED)
    A=0.453642/137 (HapMap)
    A=0.467593/101 (Qatari)
    A=0.467833/2343 (1000Genomes)
    HGVS:

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