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Items: 3

1.

rs9873555 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    3:100777836 (GRCh38)
    3:100496680 (GRCh37)
    Canonical SPDI:
    NC_000003.12:100777835:C:G
    Gene:
    ABI3BP (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.138115/2609 (ALFA)
    G=0.000035/1 (TOMMO)
    G=0.000546/1 (Korea1K)
    G=0.05/2 (GENOME_DK)
    G=0.095878/480 (1000Genomes)
    G=0.114062/511 (Estonian)
    G=0.127907/209 (HapMap)
    G=0.134644/35639 (TOPMED)
    G=0.13718/19217 (GnomAD)
    G=0.152778/33 (Qatari)
    G=0.161003/597 (TWINSUK)
    G=0.164764/635 (ALSPAC)
    G=0.168333/101 (NorthernSweden)
    G=0.188377/188 (GoNL)
    C=0.333333/2 (Siberian)
    C=0.46875/30 (SGDP_PRJ)
    HGVS:
    2.

    rs9850273 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      3:100780521 (GRCh38)
      3:100499365 (GRCh37)
      Canonical SPDI:
      NC_000003.12:100780520:G:A,NC_000003.12:100780520:G:T
      Gene:
      ABI3BP (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.238087/5546 (ALFA)
      A=0.075/3 (GENOME_DK)
      A=0.158482/710 (Estonian)
      A=0.174757/648 (TWINSUK)
      A=0.177218/683 (ALSPAC)
      A=0.179359/179 (GoNL)
      A=0.183706/115 (Chileans)
      A=0.21/126 (NorthernSweden)
      A=0.271028/58 (Vietnamese)
      A=0.316461/44216 (GnomAD)
      A=0.327508/86688 (TOPMED)
      A=0.328704/71 (Qatari)
      A=0.332423/974 (KOREAN)
      A=0.361181/1809 (1000Genomes)
      A=0.363012/6084 (TOMMO)
      G=0.375/9 (Siberian)
      A=0.382576/303 (PRJEB37584)
      G=0.396/99 (SGDP_PRJ)
      A=0.431217/815 (HapMap)
      HGVS:
      3.

      rs6777810 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:100528298 (GRCh38)
        3:100247142 (GRCh37)
        Canonical SPDI:
        NC_000003.12:100528297:C:T
        Gene:
        TMEM45A (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.489558/150171 (ALFA)
        C=0.3/12 (Siberian)
        C=0.302752/132 (SGDP_PRJ)
        T=0.35514/76 (Vietnamese)
        T=0.371258/6222 (TOMMO)
        T=0.384825/705 (Korea1K)
        C=0.391949/740 (HapMap)
        T=0.397468/314 (PRJEB37584)
        T=0.40273/1180 (KOREAN)
        C=0.405954/107452 (TOPMED)
        C=0.407089/2039 (1000Genomes)
        C=0.416667/90 (Qatari)
        C=0.418298/58555 (GnomAD)
        T=0.425/1904 (Estonian)
        T=0.432866/432 (GoNL)
        T=0.45/18 (GENOME_DK)
        T=0.453345/515 (Daghestan)
        T=0.459459/34 (PRJEB36033)
        T=0.47068/1814 (ALSPAC)
        C=0.470729/981 (HGDP_Stanford)
        T=0.476667/286 (NorthernSweden)
        T=0.478964/1776 (TWINSUK)
        T=0.486381/99745 (GENOGRAPHIC)
        HGVS:

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