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Items: 4

1.

rs4756 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:58563286
    Gene:
    MZF1 (Varview), MZF1-AS1 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.104631/61 (Vietnamese)
    C=0.165/99 (NorthernSweden)
    C=0.21069/812 (ALSPAC)
    C=0.218716/811 (TWINSUK)
    C=0.228897/1025 (Estonian)
    C=0.272085/63022 (GnomAD_exomes)
    C=0.306386/28114 (ExAC)
    C=0.337972/10565 (GnomAD)
    C=0.348151/4519 (GoESP)
    C=0.351284/44110 (TOPMED)
    C=0.373403/1870 (1000Genomes)
    HGVS:
    NC_000019.10:g.58563286T>C, NC_000019.9:g.59074653T>C, XM_011527264.3:c.1081A>G, XM_005259204.3:c.1114A>G, XM_005259204.1:c.1114A>G, NM_003422.2:c.991A>G, XM_017027206.1:c.139A>G, NM_198055.1:c.991A>G, NM_198055.2:c.991A>G, XM_024451689.1:c.1114A>G, XP_011525566.1:p.Ile361Val, XP_005259261.1:p.Ile372Val, NP_003413.2:p.Ile331Val, XP_016882695.1:p.Ile47Val, NP_932172.1:p.Ile331Val, XP_024307457.1:p.Ile372Val
    2.

    rs117504483 has merged into rs4756 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:58563286
      Gene:
      MZF1 (Varview), MZF1-AS1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.104631/61 (Vietnamese)
      C=0.165/99 (NorthernSweden)
      C=0.21069/812 (ALSPAC)
      C=0.218716/811 (TWINSUK)
      C=0.228897/1025 (Estonian)
      C=0.272085/63022 (GnomAD_exomes)
      C=0.306386/28114 (ExAC)
      C=0.337972/10565 (GnomAD)
      C=0.348151/4519 (GoESP)
      C=0.351284/44110 (TOPMED)
      C=0.373403/1870 (1000Genomes)
      HGVS:
      NC_000019.10:g.58563286T>C, NC_000019.9:g.59074653T>C, XM_011527264.3:c.1081A>G, XM_005259204.3:c.1114A>G, XM_005259204.1:c.1114A>G, NM_003422.2:c.991A>G, XM_017027206.1:c.139A>G, NM_198055.1:c.991A>G, NM_198055.2:c.991A>G, XM_024451689.1:c.1114A>G, XP_011525566.1:p.Ile361Val, XP_005259261.1:p.Ile372Val, NP_003413.2:p.Ile331Val, XP_016882695.1:p.Ile47Val, NP_932172.1:p.Ile331Val, XP_024307457.1:p.Ile372Val
      3.

      rs3764524 has merged into rs4756 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:58563286
        Gene:
        MZF1 (Varview), MZF1-AS1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.104631/61 (Vietnamese)
        C=0.165/99 (NorthernSweden)
        C=0.21069/812 (ALSPAC)
        C=0.218716/811 (TWINSUK)
        C=0.228897/1025 (Estonian)
        C=0.272085/63022 (GnomAD_exomes)
        C=0.306386/28114 (ExAC)
        C=0.337972/10565 (GnomAD)
        C=0.348151/4519 (GoESP)
        C=0.351284/44110 (TOPMED)
        C=0.373403/1870 (1000Genomes)
        HGVS:
        NC_000019.10:g.58563286T>C, NC_000019.9:g.59074653T>C, XM_011527264.3:c.1081A>G, XM_005259204.3:c.1114A>G, XM_005259204.1:c.1114A>G, NM_003422.2:c.991A>G, XM_017027206.1:c.139A>G, NM_198055.1:c.991A>G, NM_198055.2:c.991A>G, XM_024451689.1:c.1114A>G, XP_011525566.1:p.Ile361Val, XP_005259261.1:p.Ile372Val, NP_003413.2:p.Ile331Val, XP_016882695.1:p.Ile47Val, NP_932172.1:p.Ile331Val, XP_024307457.1:p.Ile372Val
        4.

        rs3167718 has merged into rs4756 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:58563286
          Gene:
          MZF1 (Varview), MZF1-AS1 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.104631/61 (Vietnamese)
          C=0.165/99 (NorthernSweden)
          C=0.21069/812 (ALSPAC)
          C=0.218716/811 (TWINSUK)
          C=0.228897/1025 (Estonian)
          C=0.272085/63022 (GnomAD_exomes)
          C=0.306386/28114 (ExAC)
          C=0.337972/10565 (GnomAD)
          C=0.348151/4519 (GoESP)
          C=0.351284/44110 (TOPMED)
          C=0.373403/1870 (1000Genomes)
          HGVS:
          NC_000019.10:g.58563286T>C, NC_000019.9:g.59074653T>C, XM_011527264.3:c.1081A>G, XM_005259204.3:c.1114A>G, XM_005259204.1:c.1114A>G, NM_003422.2:c.991A>G, XM_017027206.1:c.139A>G, NM_198055.1:c.991A>G, NM_198055.2:c.991A>G, XM_024451689.1:c.1114A>G, XP_011525566.1:p.Ile361Val, XP_005259261.1:p.Ile372Val, NP_003413.2:p.Ile331Val, XP_016882695.1:p.Ile47Val, NP_932172.1:p.Ile331Val, XP_024307457.1:p.Ile372Val

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