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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490932414 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:29755942 (GRCh38)
    6:29723719 (GRCh37)
    Canonical SPDI:
    NC_000006.12:29755941:G:A
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.00122/20 (ALFA)
    A=0.01493/2 (Korea1K)
    A=0.01677/49 (KOREAN)
    A=0.02548/427 (TOMMO)
    A=0.03326/213 (1000Genomes)
    G=0.5/3 (SGDP_PRJ)
    HGVS:
    2.
    3.

    rs1490027787 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AC>- [Show Flanks]
      Chromosome:
      6:29751483 (GRCh38)
      6:29719260 (GRCh37)
      Canonical SPDI:
      NC_000006.12:29751482:AC:
      Gene:
      IFITM4P (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.01096/49 (ALFA)
      -=0.00226/64 (TOMMO)
      -=0.01094/49 (Estonian)
      HGVS:
      13.

      rs1487828671 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:29752435 (GRCh38)
        6:29720212 (GRCh37)
        Canonical SPDI:
        NC_000006.12:29752434:C:T
        Gene:
        IFITM4P (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000034/9 (TOPMED)
        T=0.000036/5 (GnomAD)
        HGVS:
        14.
        15.
        16.
        20.

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