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Links from Nucleotide

Items: 3

1.

rs1416496264 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    X:141584703 (GRCh38)
    X:140672825 (GRCh37)
    Canonical SPDI:
    NC_000023.11:141584702:A:T
    Gene:
    SPANXA1 (Varview), SPANXA2-OT1 (Varview)
    Functional Consequence:
    intron_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.00405/48 (ALFA)
    HGVS:
    2.

    rs879812249 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      X:141584705 (GRCh38)
      X:140672827 (GRCh37)
      Canonical SPDI:
      NC_000023.11:141584704:T:C
      Gene:
      SPANXA1 (Varview), SPANXA2-OT1 (Varview)
      Functional Consequence:
      intron_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.0117/161 (ALFA)
      C=0.01017/3 (GnomAD_exomes)
      C=0.0166/103 (TOMMO)
      C=0.03364/37 (KOREAN)
      HGVS:
      3.

      rs112194721 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        X:141584734 (GRCh38)
        X:140672856 (GRCh37)
        Canonical SPDI:
        NC_000023.11:141584733:T:G
        Gene:
        SPANXA1 (Varview), SPANXA2-OT1 (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.00548/65 (ALFA)
        G=0.00305/21 (TOMMO)
        G=0.01196/15 (KOREAN)
        HGVS:

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