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Items: 3

1.

rs284662 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:41426370
    Gene:
    B3GNT8 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.378069/231 (Vietnamese)
    T=0.313615/4077 (GoESP)
    T=0.335372/42112 (TOPMED)
    T=0.338968/10607 (GnomAD)
    T=0.378195/1894 (1000Genomes)
    T=0.38/228 (NorthernSweden)
    T=0.384536/1482 (ALSPAC)
    T=0.386462/1433 (TWINSUK)
    T=0.3934/47079 (ExAC)
    T=0.40165/100218 (GnomAD_exomes)
    T=0.422098/1891 (Estonian)
    HGVS:
    NC_000019.10:g.41426370T>C, NC_000019.9:g.41932275T>C, NG_013004.1:g.33582T>C, XM_011526934.2:c.409A>G, NM_198540.2:c.409A>G, XP_011525236.1:p.Ser137Gly, NP_940942.1:p.Ser137Gly
    2.

    rs60093894 has merged into rs284662 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:41426370
      Gene:
      B3GNT8 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.378069/231 (Vietnamese)
      T=0.313615/4077 (GoESP)
      T=0.335372/42112 (TOPMED)
      T=0.338968/10607 (GnomAD)
      T=0.378195/1894 (1000Genomes)
      T=0.38/228 (NorthernSweden)
      T=0.384536/1482 (ALSPAC)
      T=0.386462/1433 (TWINSUK)
      T=0.3934/47079 (ExAC)
      T=0.40165/100218 (GnomAD_exomes)
      T=0.422098/1891 (Estonian)
      HGVS:
      NC_000019.10:g.41426370T>C, NC_000019.9:g.41932275T>C, NG_013004.1:g.33582T>C, XM_011526934.2:c.409A>G, NM_198540.2:c.409A>G, XP_011525236.1:p.Ser137Gly, NP_940942.1:p.Ser137Gly
      3.

      rs17549753 has merged into rs284662 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:41426370
        Gene:
        B3GNT8 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.378069/231 (Vietnamese)
        T=0.313615/4077 (GoESP)
        T=0.335372/42112 (TOPMED)
        T=0.338968/10607 (GnomAD)
        T=0.378195/1894 (1000Genomes)
        T=0.38/228 (NorthernSweden)
        T=0.384536/1482 (ALSPAC)
        T=0.386462/1433 (TWINSUK)
        T=0.3934/47079 (ExAC)
        T=0.40165/100218 (GnomAD_exomes)
        T=0.422098/1891 (Estonian)
        HGVS:
        NC_000019.10:g.41426370T>C, NC_000019.9:g.41932275T>C, NG_013004.1:g.33582T>C, XM_011526934.2:c.409A>G, NM_198540.2:c.409A>G, XP_011525236.1:p.Ser137Gly, NP_940942.1:p.Ser137Gly

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