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Items: 1 to 20 of 357

1.

rs1489845678 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    12:54384460 (GRCh38)
    12:54778244 (GRCh37)
    Canonical SPDI:
    NC_000012.12:54384459:G:A,NC_000012.12:54384459:G:C
    Gene:
    ZNF385A (Varview), GPR84-AS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.00003/1 (ALFA)
    A=0.000004/1 (TOPMED)
    C=0.000005/1 (GnomAD_exomes)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000012.12:g.54384460G>A, NC_000012.12:g.54384460G>C, NC_000012.11:g.54778244G>A, NC_000012.11:g.54778244G>C, XM_005268783.5:c.55C>T, XM_005268783.5:c.55C>G, XM_005268783.4:c.55C>T, XM_005268783.4:c.55C>G, XM_005268783.3:c.55C>T, XM_005268783.3:c.55C>G, XM_005268783.2:c.55C>T, XM_005268783.2:c.55C>G, XM_005268783.1:c.55C>T, XM_005268783.1:c.55C>G, XM_011538171.4:c.214C>T, XM_011538171.4:c.214C>G, XM_011538171.3:c.214C>T, XM_011538171.3:c.214C>G, XM_011538171.2:c.214C>T, XM_011538171.2:c.214C>G, XM_011538171.1:c.214C>T, XM_011538171.1:c.214C>G, NM_015481.3:c.55C>T, NM_015481.3:c.55C>G, NM_015481.2:c.55C>T, NM_015481.2:c.55C>G, NM_015481.1:c.55C>T, NM_015481.1:c.55C>G, XM_011538168.3:c.214C>T, XM_011538168.3:c.214C>G, XM_011538168.2:c.214C>T, XM_011538168.2:c.214C>G, XM_011538168.1:c.214C>T, XM_011538168.1:c.214C>G, NM_001130967.3:c.115C>T, NM_001130967.3:c.115C>G, NM_001130967.2:c.115C>T, NM_001130967.2:c.115C>G, NM_001130967.1:c.115C>T, NM_001130967.1:c.115C>G, XM_011538169.3:c.214C>T, XM_011538169.3:c.214C>G, XM_011538169.2:c.214C>T, XM_011538169.2:c.214C>G, XM_011538169.1:c.214C>T, XM_011538169.1:c.214C>G, NM_001130968.3:c.115C>T, NM_001130968.3:c.115C>G, NM_001130968.2:c.115C>T, NM_001130968.2:c.115C>G, NM_001130968.1:c.115C>T, NM_001130968.1:c.115C>G, NM_001290002.2:c.55C>T, NM_001290002.2:c.55C>G, NM_001290002.1:c.55C>T, NM_001290002.1:c.55C>G, NM_001290004.2:c.55C>T, NM_001290004.2:c.55C>G, NM_001290004.1:c.55C>T, NM_001290004.1:c.55C>G, XM_024448935.2:c.55C>T, XM_024448935.2:c.55C>G, XM_024448935.1:c.55C>T, XM_024448935.1:c.55C>G, XM_011538170.2:c.115C>T, XM_011538170.2:c.115C>G, XM_011538170.1:c.115C>T, XM_011538170.1:c.115C>G, NM_001290001.2:c.55C>T, NM_001290001.2:c.55C>G, NM_001290001.1:c.55C>T, NM_001290001.1:c.55C>G, XM_024448936.2:c.55C>T, XM_024448936.2:c.55C>G, XM_024448936.1:c.55C>T, XM_024448936.1:c.55C>G, XM_047428695.1:c.55C>T, XM_047428695.1:c.55C>G, XM_047428696.1:c.55C>T, XM_047428696.1:c.55C>G, XM_047428694.1:c.55C>T, XM_047428694.1:c.55C>G, XM_047428697.1:c.55C>T, XM_047428697.1:c.55C>G, XM_047428698.1:c.55C>T, XM_047428698.1:c.55C>G, XP_005268840.1:p.Pro19Ser, XP_005268840.1:p.Pro19Ala, XP_011536473.1:p.Pro72Ser, XP_011536473.1:p.Pro72Ala, NP_056296.1:p.Pro19Ser, NP_056296.1:p.Pro19Ala, XP_011536470.1:p.Pro72Ser, XP_011536470.1:p.Pro72Ala, NP_001124439.1:p.Pro39Ser, NP_001124439.1:p.Pro39Ala, XP_011536471.1:p.Pro72Ser, XP_011536471.1:p.Pro72Ala, NP_001124440.1:p.Pro39Ser, NP_001124440.1:p.Pro39Ala, NP_001276931.1:p.Pro19Ser, NP_001276931.1:p.Pro19Ala, NP_001276933.1:p.Pro19Ser, NP_001276933.1:p.Pro19Ala, XP_024304703.1:p.Pro19Ser, XP_024304703.1:p.Pro19Ala, XP_011536472.1:p.Pro39Ser, XP_011536472.1:p.Pro39Ala, NP_001276930.1:p.Pro19Ser, NP_001276930.1:p.Pro19Ala, XP_024304704.1:p.Pro19Ser, XP_024304704.1:p.Pro19Ala, XP_047284651.1:p.Pro19Ser, XP_047284651.1:p.Pro19Ala, XP_047284652.1:p.Pro19Ser, XP_047284652.1:p.Pro19Ala, XP_047284650.1:p.Pro19Ser, XP_047284650.1:p.Pro19Ala, XP_047284653.1:p.Pro19Ser, XP_047284653.1:p.Pro19Ala, XP_047284654.1:p.Pro19Ser, XP_047284654.1:p.Pro19Ala
    2.

    rs1487128201 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      12:54370398 (GRCh38)
      12:54764182 (GRCh37)
      Canonical SPDI:
      NC_000012.12:54370397:G:C
      Gene:
      ZNF385A (Varview), GPR84-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000007/1 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.54370398G>C, NC_000012.11:g.54764182G>C, XM_005268783.5:c.959C>G, XM_005268783.4:c.959C>G, XM_005268783.3:c.959C>G, XM_005268783.2:c.959C>G, XM_005268783.1:c.959C>G, XM_011538171.4:c.875C>G, XM_011538171.3:c.875C>G, XM_011538171.2:c.875C>G, XM_011538171.1:c.875C>G, NM_015481.3:c.959C>G, NM_015481.2:c.959C>G, NM_015481.1:c.959C>G, XM_011538168.3:c.1118C>G, XM_011538168.2:c.1118C>G, XM_011538168.1:c.1118C>G, NM_001130967.3:c.1019C>G, NM_001130967.2:c.1019C>G, NM_001130967.1:c.1019C>G, XM_011538169.3:c.1007C>G, XM_011538169.2:c.1007C>G, XM_011538169.1:c.1007C>G, NM_001130968.3:c.776C>G, NM_001130968.2:c.776C>G, NM_001130968.1:c.776C>G, NM_001290002.2:c.959C>G, NM_001290002.1:c.959C>G, NM_001290004.2:c.959C>G, NM_001290004.1:c.959C>G, XM_024448935.2:c.716C>G, XM_024448935.1:c.716C>G, XM_011538170.2:c.908C>G, XM_011538170.1:c.908C>G, NM_001290001.2:c.716C>G, NM_001290001.1:c.716C>G, XM_024448936.2:c.605C>G, XM_024448936.1:c.605C>G, XM_047428695.1:c.959C>G, XM_047428696.1:c.959C>G, XM_047428694.1:c.959C>G, XM_047428697.1:c.848C>G, XM_047428698.1:c.716C>G, XP_005268840.1:p.Ala320Gly, XP_011536473.1:p.Ala292Gly, NP_056296.1:p.Ala320Gly, XP_011536470.1:p.Ala373Gly, NP_001124439.1:p.Ala340Gly, XP_011536471.1:p.Ala336Gly, NP_001124440.1:p.Ala259Gly, NP_001276931.1:p.Ala320Gly, NP_001276933.1:p.Ala320Gly, XP_024304703.1:p.Ala239Gly, XP_011536472.1:p.Ala303Gly, NP_001276930.1:p.Ala239Gly, XP_024304704.1:p.Ala202Gly, XP_047284651.1:p.Ala320Gly, XP_047284652.1:p.Ala320Gly, XP_047284650.1:p.Ala320Gly, XP_047284653.1:p.Ala283Gly, XP_047284654.1:p.Ala239Gly
      4.

      rs1485965454 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        12:54370642 (GRCh38)
        12:54764426 (GRCh37)
        Canonical SPDI:
        NC_000012.12:54370641:C:T
        Gene:
        ZNF385A (Varview), GPR84-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.54370642C>T, NC_000012.11:g.54764426C>T, XM_005268783.5:c.854G>A, XM_005268783.4:c.854G>A, XM_005268783.3:c.854G>A, XM_005268783.2:c.854G>A, XM_005268783.1:c.854G>A, XM_011538171.4:c.770G>A, XM_011538171.3:c.770G>A, XM_011538171.2:c.770G>A, XM_011538171.1:c.770G>A, NM_015481.3:c.854G>A, NM_015481.2:c.854G>A, NM_015481.1:c.854G>A, XM_011538168.3:c.1013G>A, XM_011538168.2:c.1013G>A, XM_011538168.1:c.1013G>A, NM_001130967.3:c.914G>A, NM_001130967.2:c.914G>A, NM_001130967.1:c.914G>A, XM_011538169.3:c.902G>A, XM_011538169.2:c.902G>A, XM_011538169.1:c.902G>A, NM_001130968.3:c.671G>A, NM_001130968.2:c.671G>A, NM_001130968.1:c.671G>A, NM_001290002.2:c.854G>A, NM_001290002.1:c.854G>A, NM_001290004.2:c.854G>A, NM_001290004.1:c.854G>A, XM_024448935.2:c.611G>A, XM_024448935.1:c.611G>A, XM_011538170.2:c.803G>A, XM_011538170.1:c.803G>A, NM_001290001.2:c.611G>A, NM_001290001.1:c.611G>A, XM_024448936.2:c.500G>A, XM_024448936.1:c.500G>A, XM_047428695.1:c.854G>A, XM_047428696.1:c.854G>A, XM_047428694.1:c.854G>A, XM_047428697.1:c.743G>A, XM_047428698.1:c.611G>A, XP_005268840.1:p.Gly285Asp, XP_011536473.1:p.Gly257Asp, NP_056296.1:p.Gly285Asp, XP_011536470.1:p.Gly338Asp, NP_001124439.1:p.Gly305Asp, XP_011536471.1:p.Gly301Asp, NP_001124440.1:p.Gly224Asp, NP_001276931.1:p.Gly285Asp, NP_001276933.1:p.Gly285Asp, XP_024304703.1:p.Gly204Asp, XP_011536472.1:p.Gly268Asp, NP_001276930.1:p.Gly204Asp, XP_024304704.1:p.Gly167Asp, XP_047284651.1:p.Gly285Asp, XP_047284652.1:p.Gly285Asp, XP_047284650.1:p.Gly285Asp, XP_047284653.1:p.Gly248Asp, XP_047284654.1:p.Gly204Asp
        5.

        rs1483388386 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:54384537 (GRCh38)
          12:54778321 (GRCh37)
          Canonical SPDI:
          NC_000012.12:54384536:G:A
          Gene:
          ZNF385A (Varview), GPR84-AS1 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000012.12:g.54384537G>A, NC_000012.11:g.54778321G>A, XM_005268783.5:c.-23C>T, XM_005268783.4:c.-23C>T, XM_005268783.3:c.-23C>T, XM_005268783.2:c.-23C>T, XM_005268783.1:c.-23C>T, XM_011538171.4:c.137C>T, XM_011538171.3:c.137C>T, XM_011538171.2:c.137C>T, XM_011538171.1:c.137C>T, NM_015481.3:c.-23C>T, NM_015481.2:c.-23C>T, NM_015481.1:c.-23C>T, XM_011538168.3:c.137C>T, XM_011538168.2:c.137C>T, XM_011538168.1:c.137C>T, NM_001130967.3:c.38C>T, NM_001130967.2:c.38C>T, NM_001130967.1:c.38C>T, XM_011538169.3:c.137C>T, XM_011538169.2:c.137C>T, XM_011538169.1:c.137C>T, NM_001130968.3:c.38C>T, NM_001130968.2:c.38C>T, NM_001130968.1:c.38C>T, NM_001290002.2:c.-23C>T, NM_001290002.1:c.-23C>T, NM_001290004.2:c.-23C>T, NM_001290004.1:c.-23C>T, XM_024448935.2:c.-23C>T, XM_024448935.1:c.-23C>T, XM_011538170.2:c.38C>T, XM_011538170.1:c.38C>T, NM_001290001.2:c.-23C>T, NM_001290001.1:c.-23C>T, XM_024448936.2:c.-23C>T, XM_024448936.1:c.-23C>T, XM_047428695.1:c.-23C>T, XM_047428696.1:c.-23C>T, XM_047428694.1:c.-23C>T, XM_047428697.1:c.-23C>T, XM_047428698.1:c.-23C>T, XP_011536473.1:p.Pro46Leu, XP_011536470.1:p.Pro46Leu, NP_001124439.1:p.Pro13Leu, XP_011536471.1:p.Pro46Leu, NP_001124440.1:p.Pro13Leu, XP_011536472.1:p.Pro13Leu
          7.

          rs1479305170 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:54373994 (GRCh38)
            12:54767778 (GRCh37)
            Canonical SPDI:
            NC_000012.12:54373993:C:A
            Gene:
            ZNF385A (Varview), GPR84-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
            HGVS:
            NC_000012.12:g.54373994C>A, NC_000012.11:g.54767778C>A, XM_005268783.5:c.340G>T, XM_005268783.4:c.340G>T, XM_005268783.3:c.340G>T, XM_005268783.2:c.340G>T, XM_005268783.1:c.340G>T, XM_011538171.4:c.499G>T, XM_011538171.3:c.499G>T, XM_011538171.2:c.499G>T, XM_011538171.1:c.499G>T, NM_015481.3:c.340G>T, NM_015481.2:c.340G>T, NM_015481.1:c.340G>T, XM_011538168.3:c.499G>T, XM_011538168.2:c.499G>T, XM_011538168.1:c.499G>T, NM_001130967.3:c.400G>T, NM_001130967.2:c.400G>T, NM_001130967.1:c.400G>T, XM_011538169.3:c.388G>T, XM_011538169.2:c.388G>T, XM_011538169.1:c.388G>T, NM_001130968.3:c.400G>T, NM_001130968.2:c.400G>T, NM_001130968.1:c.400G>T, NM_001290002.2:c.340G>T, NM_001290002.1:c.340G>T, NM_001290004.2:c.340G>T, NM_001290004.1:c.340G>T, XM_024448935.2:c.340G>T, XM_024448935.1:c.340G>T, XM_011538170.2:c.289G>T, XM_011538170.1:c.289G>T, NM_001290001.2:c.340G>T, NM_001290001.1:c.340G>T, XM_024448936.2:c.229G>T, XM_024448936.1:c.229G>T, XM_047428695.1:c.340G>T, XM_047428696.1:c.340G>T, XM_047428694.1:c.340G>T, XM_047428697.1:c.229G>T, XM_047428698.1:c.340G>T, XP_005268840.1:p.Asp114Tyr, XP_011536473.1:p.Asp167Tyr, NP_056296.1:p.Asp114Tyr, XP_011536470.1:p.Asp167Tyr, NP_001124439.1:p.Asp134Tyr, XP_011536471.1:p.Asp130Tyr, NP_001124440.1:p.Asp134Tyr, NP_001276931.1:p.Asp114Tyr, NP_001276933.1:p.Asp114Tyr, XP_024304703.1:p.Asp114Tyr, XP_011536472.1:p.Asp97Tyr, NP_001276930.1:p.Asp114Tyr, XP_024304704.1:p.Asp77Tyr, XP_047284651.1:p.Asp114Tyr, XP_047284652.1:p.Asp114Tyr, XP_047284650.1:p.Asp114Tyr, XP_047284653.1:p.Asp77Tyr, XP_047284654.1:p.Asp114Tyr
            8.

            rs1473164610 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              12:54374057 (GRCh38)
              12:54767841 (GRCh37)
              Canonical SPDI:
              NC_000012.12:54374056:T:A
              Gene:
              ZNF385A (Varview), GPR84-AS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
              HGVS:
              NC_000012.12:g.54374057T>A, NC_000012.11:g.54767841T>A, XM_005268783.5:c.277A>T, XM_005268783.4:c.277A>T, XM_005268783.3:c.277A>T, XM_005268783.2:c.277A>T, XM_005268783.1:c.277A>T, XM_011538171.4:c.436A>T, XM_011538171.3:c.436A>T, XM_011538171.2:c.436A>T, XM_011538171.1:c.436A>T, NM_015481.3:c.277A>T, NM_015481.2:c.277A>T, NM_015481.1:c.277A>T, XM_011538168.3:c.436A>T, XM_011538168.2:c.436A>T, XM_011538168.1:c.436A>T, NM_001130967.3:c.337A>T, NM_001130967.2:c.337A>T, NM_001130967.1:c.337A>T, XM_011538169.3:c.325A>T, XM_011538169.2:c.325A>T, XM_011538169.1:c.325A>T, NM_001130968.3:c.337A>T, NM_001130968.2:c.337A>T, NM_001130968.1:c.337A>T, NM_001290002.2:c.277A>T, NM_001290002.1:c.277A>T, NM_001290004.2:c.277A>T, NM_001290004.1:c.277A>T, XM_024448935.2:c.277A>T, XM_024448935.1:c.277A>T, XM_011538170.2:c.226A>T, XM_011538170.1:c.226A>T, NM_001290001.2:c.277A>T, NM_001290001.1:c.277A>T, XM_024448936.2:c.166A>T, XM_024448936.1:c.166A>T, XM_047428695.1:c.277A>T, XM_047428696.1:c.277A>T, XM_047428694.1:c.277A>T, XM_047428697.1:c.166A>T, XM_047428698.1:c.277A>T, XP_005268840.1:p.Arg93Trp, XP_011536473.1:p.Arg146Trp, NP_056296.1:p.Arg93Trp, XP_011536470.1:p.Arg146Trp, NP_001124439.1:p.Arg113Trp, XP_011536471.1:p.Arg109Trp, NP_001124440.1:p.Arg113Trp, NP_001276931.1:p.Arg93Trp, NP_001276933.1:p.Arg93Trp, XP_024304703.1:p.Arg93Trp, XP_011536472.1:p.Arg76Trp, NP_001276930.1:p.Arg93Trp, XP_024304704.1:p.Arg56Trp, XP_047284651.1:p.Arg93Trp, XP_047284652.1:p.Arg93Trp, XP_047284650.1:p.Arg93Trp, XP_047284653.1:p.Arg56Trp, XP_047284654.1:p.Arg93Trp
              9.

              rs1472198954 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                12:54370650 (GRCh38)
                12:54764434 (GRCh37)
                Canonical SPDI:
                NC_000012.12:54370649:C:A
                Gene:
                ZNF385A (Varview), GPR84-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                HGVS:
                NC_000012.12:g.54370650C>A, NC_000012.11:g.54764434C>A, XM_005268783.5:c.846G>T, XM_005268783.4:c.846G>T, XM_005268783.3:c.846G>T, XM_005268783.2:c.846G>T, XM_005268783.1:c.846G>T, XM_011538171.4:c.762G>T, XM_011538171.3:c.762G>T, XM_011538171.2:c.762G>T, XM_011538171.1:c.762G>T, NM_015481.3:c.846G>T, NM_015481.2:c.846G>T, NM_015481.1:c.846G>T, XM_011538168.3:c.1005G>T, XM_011538168.2:c.1005G>T, XM_011538168.1:c.1005G>T, NM_001130967.3:c.906G>T, NM_001130967.2:c.906G>T, NM_001130967.1:c.906G>T, XM_011538169.3:c.894G>T, XM_011538169.2:c.894G>T, XM_011538169.1:c.894G>T, NM_001130968.3:c.663G>T, NM_001130968.2:c.663G>T, NM_001130968.1:c.663G>T, NM_001290002.2:c.846G>T, NM_001290002.1:c.846G>T, NM_001290004.2:c.846G>T, NM_001290004.1:c.846G>T, XM_024448935.2:c.603G>T, XM_024448935.1:c.603G>T, XM_011538170.2:c.795G>T, XM_011538170.1:c.795G>T, NM_001290001.2:c.603G>T, NM_001290001.1:c.603G>T, XM_024448936.2:c.492G>T, XM_024448936.1:c.492G>T, XM_047428695.1:c.846G>T, XM_047428696.1:c.846G>T, XM_047428694.1:c.846G>T, XM_047428697.1:c.735G>T, XM_047428698.1:c.603G>T, XP_005268840.1:p.Lys282Asn, XP_011536473.1:p.Lys254Asn, NP_056296.1:p.Lys282Asn, XP_011536470.1:p.Lys335Asn, NP_001124439.1:p.Lys302Asn, XP_011536471.1:p.Lys298Asn, NP_001124440.1:p.Lys221Asn, NP_001276931.1:p.Lys282Asn, NP_001276933.1:p.Lys282Asn, XP_024304703.1:p.Lys201Asn, XP_011536472.1:p.Lys265Asn, NP_001276930.1:p.Lys201Asn, XP_024304704.1:p.Lys164Asn, XP_047284651.1:p.Lys282Asn, XP_047284652.1:p.Lys282Asn, XP_047284650.1:p.Lys282Asn, XP_047284653.1:p.Lys245Asn, XP_047284654.1:p.Lys201Asn
                10.

                rs1469118315 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:54374080 (GRCh38)
                  12:54767864 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:54374079:A:G
                  Gene:
                  ZNF385A (Varview), GPR84-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000012.12:g.54374080A>G, NC_000012.11:g.54767864A>G, XM_005268783.5:c.254T>C, XM_005268783.4:c.254T>C, XM_005268783.3:c.254T>C, XM_005268783.2:c.254T>C, XM_005268783.1:c.254T>C, XM_011538171.4:c.413T>C, XM_011538171.3:c.413T>C, XM_011538171.2:c.413T>C, XM_011538171.1:c.413T>C, NM_015481.3:c.254T>C, NM_015481.2:c.254T>C, NM_015481.1:c.254T>C, XM_011538168.3:c.413T>C, XM_011538168.2:c.413T>C, XM_011538168.1:c.413T>C, NM_001130967.3:c.314T>C, NM_001130967.2:c.314T>C, NM_001130967.1:c.314T>C, XM_011538169.3:c.302T>C, XM_011538169.2:c.302T>C, XM_011538169.1:c.302T>C, NM_001130968.3:c.314T>C, NM_001130968.2:c.314T>C, NM_001130968.1:c.314T>C, NM_001290002.2:c.254T>C, NM_001290002.1:c.254T>C, NM_001290004.2:c.254T>C, NM_001290004.1:c.254T>C, XM_024448935.2:c.254T>C, XM_024448935.1:c.254T>C, XM_011538170.2:c.203T>C, XM_011538170.1:c.203T>C, NM_001290001.2:c.254T>C, NM_001290001.1:c.254T>C, XM_024448936.2:c.143T>C, XM_024448936.1:c.143T>C, XM_047428695.1:c.254T>C, XM_047428696.1:c.254T>C, XM_047428694.1:c.254T>C, XM_047428697.1:c.143T>C, XM_047428698.1:c.254T>C, XP_005268840.1:p.Ile85Thr, XP_011536473.1:p.Ile138Thr, NP_056296.1:p.Ile85Thr, XP_011536470.1:p.Ile138Thr, NP_001124439.1:p.Ile105Thr, XP_011536471.1:p.Ile101Thr, NP_001124440.1:p.Ile105Thr, NP_001276931.1:p.Ile85Thr, NP_001276933.1:p.Ile85Thr, XP_024304703.1:p.Ile85Thr, XP_011536472.1:p.Ile68Thr, NP_001276930.1:p.Ile85Thr, XP_024304704.1:p.Ile48Thr, XP_047284651.1:p.Ile85Thr, XP_047284652.1:p.Ile85Thr, XP_047284650.1:p.Ile85Thr, XP_047284653.1:p.Ile48Thr, XP_047284654.1:p.Ile85Thr
                  13.
                  14.

                  15.

                  rs1460069451 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:54375917 (GRCh38)
                    12:54769701 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:54375916:A:G
                    Gene:
                    ZNF385A (Varview), GPR84-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.54375917A>G, NC_000012.11:g.54769701A>G, XM_005268783.5:c.125T>C, XM_005268783.4:c.125T>C, XM_005268783.3:c.125T>C, XM_005268783.2:c.125T>C, XM_005268783.1:c.125T>C, XM_011538171.4:c.284T>C, XM_011538171.3:c.284T>C, XM_011538171.2:c.284T>C, XM_011538171.1:c.284T>C, NM_015481.3:c.125T>C, NM_015481.2:c.125T>C, NM_015481.1:c.125T>C, XM_011538168.3:c.284T>C, XM_011538168.2:c.284T>C, XM_011538168.1:c.284T>C, NM_001130967.3:c.185T>C, NM_001130967.2:c.185T>C, NM_001130967.1:c.185T>C, NM_001130968.3:c.185T>C, NM_001130968.2:c.185T>C, NM_001130968.1:c.185T>C, NM_001290002.2:c.125T>C, NM_001290002.1:c.125T>C, NM_001290004.2:c.125T>C, NM_001290004.1:c.125T>C, XM_024448935.2:c.125T>C, XM_024448935.1:c.125T>C, NM_001290001.2:c.125T>C, NM_001290001.1:c.125T>C, XM_047428695.1:c.125T>C, XM_047428696.1:c.125T>C, XM_047428694.1:c.125T>C, XM_047428698.1:c.125T>C, XP_005268840.1:p.Phe42Ser, XP_011536473.1:p.Phe95Ser, NP_056296.1:p.Phe42Ser, XP_011536470.1:p.Phe95Ser, NP_001124439.1:p.Phe62Ser, NP_001124440.1:p.Phe62Ser, NP_001276931.1:p.Phe42Ser, NP_001276933.1:p.Phe42Ser, XP_024304703.1:p.Phe42Ser, NP_001276930.1:p.Phe42Ser, XP_047284651.1:p.Phe42Ser, XP_047284652.1:p.Phe42Ser, XP_047284650.1:p.Phe42Ser, XP_047284654.1:p.Phe42Ser
                    16.

                    rs1459984770 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:54370283 (GRCh38)
                      12:54764067 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:54370282:G:A
                      Gene:
                      ZNF385A (Varview), GPR84-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000012.12:g.54370283G>A, NC_000012.11:g.54764067G>A, XM_005268783.5:c.1074C>T, XM_005268783.4:c.1074C>T, XM_005268783.3:c.1074C>T, XM_005268783.2:c.1074C>T, XM_005268783.1:c.1074C>T, XM_011538171.4:c.990C>T, XM_011538171.3:c.990C>T, XM_011538171.2:c.990C>T, XM_011538171.1:c.990C>T, NM_015481.3:c.1074C>T, NM_015481.2:c.1074C>T, NM_015481.1:c.1074C>T, XM_011538168.3:c.1233C>T, XM_011538168.2:c.1233C>T, XM_011538168.1:c.1233C>T, NM_001130967.3:c.1134C>T, NM_001130967.2:c.1134C>T, NM_001130967.1:c.1134C>T, XM_011538169.3:c.1122C>T, XM_011538169.2:c.1122C>T, XM_011538169.1:c.1122C>T, NM_001130968.3:c.891C>T, NM_001130968.2:c.891C>T, NM_001130968.1:c.891C>T, NM_001290002.2:c.1074C>T, NM_001290002.1:c.1074C>T, NM_001290004.2:c.1074C>T, NM_001290004.1:c.1074C>T, XM_024448935.2:c.831C>T, XM_024448935.1:c.831C>T, XM_011538170.2:c.1023C>T, XM_011538170.1:c.1023C>T, NM_001290001.2:c.831C>T, NM_001290001.1:c.831C>T, XM_024448936.2:c.720C>T, XM_024448936.1:c.720C>T, XM_047428695.1:c.1074C>T, XM_047428696.1:c.1074C>T, XM_047428694.1:c.1074C>T, XM_047428697.1:c.963C>T, XM_047428698.1:c.831C>T
                      17.
                      18.

                      rs1458749234 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:54370443 (GRCh38)
                        12:54764227 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:54370442:C:T
                        Gene:
                        ZNF385A (Varview), GPR84-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000142/2 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        T=0.000014/2 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.54370443C>T, NC_000012.11:g.54764227C>T, XM_005268783.5:c.914G>A, XM_005268783.4:c.914G>A, XM_005268783.3:c.914G>A, XM_005268783.2:c.914G>A, XM_005268783.1:c.914G>A, XM_011538171.4:c.830G>A, XM_011538171.3:c.830G>A, XM_011538171.2:c.830G>A, XM_011538171.1:c.830G>A, NM_015481.3:c.914G>A, NM_015481.2:c.914G>A, NM_015481.1:c.914G>A, XM_011538168.3:c.1073G>A, XM_011538168.2:c.1073G>A, XM_011538168.1:c.1073G>A, NM_001130967.3:c.974G>A, NM_001130967.2:c.974G>A, NM_001130967.1:c.974G>A, XM_011538169.3:c.962G>A, XM_011538169.2:c.962G>A, XM_011538169.1:c.962G>A, NM_001130968.3:c.731G>A, NM_001130968.2:c.731G>A, NM_001130968.1:c.731G>A, NM_001290002.2:c.914G>A, NM_001290002.1:c.914G>A, NM_001290004.2:c.914G>A, NM_001290004.1:c.914G>A, XM_024448935.2:c.671G>A, XM_024448935.1:c.671G>A, XM_011538170.2:c.863G>A, XM_011538170.1:c.863G>A, NM_001290001.2:c.671G>A, NM_001290001.1:c.671G>A, XM_024448936.2:c.560G>A, XM_024448936.1:c.560G>A, XM_047428695.1:c.914G>A, XM_047428696.1:c.914G>A, XM_047428694.1:c.914G>A, XM_047428697.1:c.803G>A, XM_047428698.1:c.671G>A, XP_005268840.1:p.Gly305Asp, XP_011536473.1:p.Gly277Asp, NP_056296.1:p.Gly305Asp, XP_011536470.1:p.Gly358Asp, NP_001124439.1:p.Gly325Asp, XP_011536471.1:p.Gly321Asp, NP_001124440.1:p.Gly244Asp, NP_001276931.1:p.Gly305Asp, NP_001276933.1:p.Gly305Asp, XP_024304703.1:p.Gly224Asp, XP_011536472.1:p.Gly288Asp, NP_001276930.1:p.Gly224Asp, XP_024304704.1:p.Gly187Asp, XP_047284651.1:p.Gly305Asp, XP_047284652.1:p.Gly305Asp, XP_047284650.1:p.Gly305Asp, XP_047284653.1:p.Gly268Asp, XP_047284654.1:p.Gly224Asp
                        20.

                        rs1453354801 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          12:54374074 (GRCh38)
                          12:54767858 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:54374073:G:T
                          Gene:
                          ZNF385A (Varview), GPR84-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000111/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.54374074G>T, NC_000012.11:g.54767858G>T, XM_005268783.5:c.260C>A, XM_005268783.4:c.260C>A, XM_005268783.3:c.260C>A, XM_005268783.2:c.260C>A, XM_005268783.1:c.260C>A, XM_011538171.4:c.419C>A, XM_011538171.3:c.419C>A, XM_011538171.2:c.419C>A, XM_011538171.1:c.419C>A, NM_015481.3:c.260C>A, NM_015481.2:c.260C>A, NM_015481.1:c.260C>A, XM_011538168.3:c.419C>A, XM_011538168.2:c.419C>A, XM_011538168.1:c.419C>A, NM_001130967.3:c.320C>A, NM_001130967.2:c.320C>A, NM_001130967.1:c.320C>A, XM_011538169.3:c.308C>A, XM_011538169.2:c.308C>A, XM_011538169.1:c.308C>A, NM_001130968.3:c.320C>A, NM_001130968.2:c.320C>A, NM_001130968.1:c.320C>A, NM_001290002.2:c.260C>A, NM_001290002.1:c.260C>A, NM_001290004.2:c.260C>A, NM_001290004.1:c.260C>A, XM_024448935.2:c.260C>A, XM_024448935.1:c.260C>A, XM_011538170.2:c.209C>A, XM_011538170.1:c.209C>A, NM_001290001.2:c.260C>A, NM_001290001.1:c.260C>A, XM_024448936.2:c.149C>A, XM_024448936.1:c.149C>A, XM_047428695.1:c.260C>A, XM_047428696.1:c.260C>A, XM_047428694.1:c.260C>A, XM_047428697.1:c.149C>A, XM_047428698.1:c.260C>A, XP_005268840.1:p.Ala87Asp, XP_011536473.1:p.Ala140Asp, NP_056296.1:p.Ala87Asp, XP_011536470.1:p.Ala140Asp, NP_001124439.1:p.Ala107Asp, XP_011536471.1:p.Ala103Asp, NP_001124440.1:p.Ala107Asp, NP_001276931.1:p.Ala87Asp, NP_001276933.1:p.Ala87Asp, XP_024304703.1:p.Ala87Asp, XP_011536472.1:p.Ala70Asp, NP_001276930.1:p.Ala87Asp, XP_024304704.1:p.Ala50Asp, XP_047284651.1:p.Ala87Asp, XP_047284652.1:p.Ala87Asp, XP_047284650.1:p.Ala87Asp, XP_047284653.1:p.Ala50Asp, XP_047284654.1:p.Ala87Asp

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