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Items: 1 to 20 of 374

1.

rs1486400222 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:51531190 (GRCh38)
    19:52034444 (GRCh37)
    Canonical SPDI:
    NC_000019.10:51531189:T:C
    Gene:
    SIGLEC6 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000008/2 (TOPMED)
    HGVS:
    NC_000019.10:g.51531190T>C, NC_000019.9:g.52034444T>C, NG_051195.1:g.5670A>G, NM_001245.7:c.397A>G, NM_001245.6:c.397A>G, NM_001245.5:c.397A>G, NM_198845.6:c.397A>G, NM_198845.5:c.397A>G, NM_198845.4:c.397A>G, NM_198846.6:c.397A>G, NM_198846.5:c.397A>G, NM_198846.4:c.397A>G, NM_001177548.3:c.397A>G, NM_001177548.2:c.397A>G, NM_001177548.1:c.397A>G, NM_001177547.3:c.289A>G, NM_001177547.2:c.289A>G, NM_001177547.1:c.289A>G, NM_001177549.3:c.397A>G, NM_001177549.2:c.397A>G, NM_001177549.1:c.397A>G, XM_011527533.4:c.397A>G, XM_011527533.3:c.397A>G, XM_011527533.2:c.397A>G, XM_011527533.1:c.397A>G, XM_011527535.4:c.397A>G, XM_011527535.3:c.397A>G, XM_011527535.2:c.397A>G, XM_011527535.1:c.397A>G, XM_011527536.4:c.289A>G, XM_011527536.3:c.289A>G, XM_011527536.2:c.289A>G, XM_011527536.1:c.289A>G, XM_011527538.4:c.397A>G, XM_011527538.3:c.397A>G, XM_011527538.2:c.397A>G, XM_011527538.1:c.397A>G, XM_011527539.4:c.397A>G, XM_011527539.3:c.397A>G, XM_011527539.2:c.397A>G, XM_011527539.1:c.397A>G, XM_011527537.3:c.289A>G, XM_011527537.2:c.289A>G, XM_011527537.1:c.289A>G, XM_017027511.3:c.397A>G, XM_017027511.2:c.397A>G, XM_017027511.1:c.397A>G, XM_047439734.1:c.397A>G, XM_047439736.1:c.397A>G, XM_047439735.1:c.397A>G, XR_007067048.1:n.419A>G, NP_001236.4:p.Thr133Ala, NP_942142.3:p.Thr133Ala, NP_942143.3:p.Thr133Ala, NP_001171019.1:p.Thr133Ala, NP_001171018.1:p.Thr97Ala, NP_001171020.1:p.Thr133Ala, XP_011525835.1:p.Thr133Ala, XP_011525837.1:p.Thr133Ala, XP_011525838.1:p.Thr97Ala, XP_011525840.1:p.Thr133Ala, XP_011525841.1:p.Thr133Ala, XP_011525839.1:p.Thr97Ala, XP_016883000.1:p.Thr133Ala, XP_047295690.1:p.Thr133Ala, XP_047295692.1:p.Thr133Ala, XP_047295691.1:p.Thr133Ala

    2.

    rs1485193332 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      19:51529821 (GRCh38)
      19:52033075 (GRCh37)
      Canonical SPDI:
      NC_000019.10:51529820:C:G,NC_000019.10:51529820:C:T
      Gene:
      SIGLEC6 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.51529821C>G, NC_000019.10:g.51529821C>T, NC_000019.9:g.52033075C>G, NC_000019.9:g.52033075C>T, NG_051195.1:g.7039G>C, NG_051195.1:g.7039G>A, NM_001245.7:c.915G>C, NM_001245.7:c.915G>A, NM_001245.6:c.915G>C, NM_001245.6:c.915G>A, NM_001245.5:c.915G>C, NM_001245.5:c.915G>A, NM_198845.6:c.867G>C, NM_198845.6:c.867G>A, NM_198845.5:c.867G>C, NM_198845.5:c.867G>A, NM_198845.4:c.867G>C, NM_198845.4:c.867G>A, NM_198846.6:c.915G>C, NM_198846.6:c.915G>A, NM_198846.5:c.915G>C, NM_198846.5:c.915G>A, NM_198846.4:c.915G>C, NM_198846.4:c.915G>A, NM_001177548.3:c.948G>C, NM_001177548.3:c.948G>A, NM_001177548.2:c.948G>C, NM_001177548.2:c.948G>A, NM_001177548.1:c.948G>C, NM_001177548.1:c.948G>A, NM_001177547.3:c.759G>C, NM_001177547.3:c.759G>A, NM_001177547.2:c.759G>C, NM_001177547.2:c.759G>A, NM_001177547.1:c.759G>C, NM_001177547.1:c.759G>A, NM_001177549.3:c.882G>C, NM_001177549.3:c.882G>A, NM_001177549.2:c.882G>C, NM_001177549.2:c.882G>A, NM_001177549.1:c.882G>C, NM_001177549.1:c.882G>A, XM_011527533.4:c.948G>C, XM_011527533.4:c.948G>A, XM_011527533.3:c.948G>C, XM_011527533.3:c.948G>A, XM_011527533.2:c.948G>C, XM_011527533.2:c.948G>A, XM_011527533.1:c.948G>C, XM_011527533.1:c.948G>A, XM_011527535.4:c.915G>C, XM_011527535.4:c.915G>A, XM_011527535.3:c.915G>C, XM_011527535.3:c.915G>A, XM_011527535.2:c.915G>C, XM_011527535.2:c.915G>A, XM_011527535.1:c.915G>C, XM_011527535.1:c.915G>A, XM_011527536.4:c.840G>C, XM_011527536.4:c.840G>A, XM_011527536.3:c.840G>C, XM_011527536.3:c.840G>A, XM_011527536.2:c.840G>C, XM_011527536.2:c.840G>A, XM_011527536.1:c.840G>C, XM_011527536.1:c.840G>A, XM_011527538.4:c.948G>C, XM_011527538.4:c.948G>A, XM_011527538.3:c.948G>C, XM_011527538.3:c.948G>A, XM_011527538.2:c.948G>C, XM_011527538.2:c.948G>A, XM_011527538.1:c.948G>C, XM_011527538.1:c.948G>A, XM_011527537.3:c.807G>C, XM_011527537.3:c.807G>A, XM_011527537.2:c.807G>C, XM_011527537.2:c.807G>A, XM_011527537.1:c.807G>C, XM_011527537.1:c.807G>A, XM_017027511.3:c.948G>C, XM_017027511.3:c.948G>A, XM_017027511.2:c.948G>C, XM_017027511.2:c.948G>A, XM_017027511.1:c.948G>C, XM_017027511.1:c.948G>A, XM_047439734.1:c.882G>C, XM_047439734.1:c.882G>A, XM_047439736.1:c.867G>C, XM_047439736.1:c.867G>A, XM_047439735.1:c.948G>C, XM_047439735.1:c.948G>A, XR_007067048.1:n.970G>C, XR_007067048.1:n.970G>A, NP_001236.4:p.Glu305Asp, NP_942142.3:p.Glu289Asp, NP_942143.3:p.Glu305Asp, NP_001171019.1:p.Glu316Asp, NP_001171018.1:p.Glu253Asp, NP_001171020.1:p.Glu294Asp, XP_011525835.1:p.Glu316Asp, XP_011525837.1:p.Glu305Asp, XP_011525838.1:p.Glu280Asp, XP_011525840.1:p.Glu316Asp, XP_011525839.1:p.Glu269Asp, XP_016883000.1:p.Glu316Asp, XP_047295690.1:p.Glu294Asp, XP_047295692.1:p.Glu289Asp, XP_047295691.1:p.Glu316Asp

      3.

      rs1483331235 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CACAGACCCTCCTGCACCG>- [Show Flanks]
        Chromosome:
        19:51531450 (GRCh38)
        19:52034704 (GRCh37)
        Canonical SPDI:
        NC_000019.10:51531447:CGCACAGACCCTCCTGCACCG:CG
        Gene:
        SIGLEC6 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        CG=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        NC_000019.10:g.51531450_51531468del, NC_000019.9:g.52034704_52034722del, NG_051195.1:g.5394_5412del, NM_001245.7:c.121_139del, NM_001245.6:c.121_139del, NM_001245.5:c.121_139del, NM_198845.6:c.121_139del, NM_198845.5:c.121_139del, NM_198845.4:c.121_139del, NM_198846.6:c.121_139del, NM_198846.5:c.121_139del, NM_198846.4:c.121_139del, NM_001177548.3:c.121_139del, NM_001177548.2:c.121_139del, NM_001177548.1:c.121_139del, NM_001177549.3:c.121_139del, NM_001177549.2:c.121_139del, NM_001177549.1:c.121_139del, XM_011527533.4:c.121_139del, XM_011527533.3:c.121_139del, XM_011527533.2:c.121_139del, XM_011527533.1:c.121_139del, XM_011527535.4:c.121_139del, XM_011527535.3:c.121_139del, XM_011527535.2:c.121_139del, XM_011527535.1:c.121_139del, XM_011527538.4:c.121_139del, XM_011527538.3:c.121_139del, XM_011527538.2:c.121_139del, XM_011527538.1:c.121_139del, XM_011527539.4:c.121_139del, XM_011527539.3:c.121_139del, XM_011527539.2:c.121_139del, XM_011527539.1:c.121_139del, XM_017027511.3:c.121_139del, XM_017027511.2:c.121_139del, XM_017027511.1:c.121_139del, XM_047439734.1:c.121_139del, XM_047439736.1:c.121_139del, XM_047439735.1:c.121_139del, XR_007067048.1:n.143_161del, NP_001236.4:p.Val41fs, NP_942142.3:p.Val41fs, NP_942143.3:p.Val41fs, NP_001171019.1:p.Val41fs, NP_001171020.1:p.Val41fs, XP_011525835.1:p.Val41fs, XP_011525837.1:p.Val41fs, XP_011525840.1:p.Val41fs, XP_011525841.1:p.Val41fs, XP_016883000.1:p.Val41fs, XP_047295690.1:p.Val41fs, XP_047295692.1:p.Val41fs, XP_047295691.1:p.Val41fs

        4.

        rs1476654436 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:51530842 (GRCh38)
          19:52034096 (GRCh37)
          Canonical SPDI:
          NC_000019.10:51530841:C:T
          Gene:
          SIGLEC6 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,stop_gained,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.51530842C>T, NC_000019.9:g.52034096C>T, NG_051195.1:g.6018G>A, NM_001245.7:c.545G>A, NM_001245.6:c.545G>A, NM_001245.5:c.545G>A, NM_198845.6:c.545G>A, NM_198845.5:c.545G>A, NM_198845.4:c.545G>A, NM_198846.6:c.545G>A, NM_198846.5:c.545G>A, NM_198846.4:c.545G>A, NM_001177548.3:c.545G>A, NM_001177548.2:c.545G>A, NM_001177548.1:c.545G>A, NM_001177547.3:c.437G>A, NM_001177547.2:c.437G>A, NM_001177547.1:c.437G>A, NM_001177549.3:c.512G>A, NM_001177549.2:c.512G>A, NM_001177549.1:c.512G>A, XM_011527533.4:c.545G>A, XM_011527533.3:c.545G>A, XM_011527533.2:c.545G>A, XM_011527533.1:c.545G>A, XM_011527535.4:c.512G>A, XM_011527535.3:c.512G>A, XM_011527535.2:c.512G>A, XM_011527535.1:c.512G>A, XM_011527536.4:c.437G>A, XM_011527536.3:c.437G>A, XM_011527536.2:c.437G>A, XM_011527536.1:c.437G>A, XM_011527538.4:c.545G>A, XM_011527538.3:c.545G>A, XM_011527538.2:c.545G>A, XM_011527538.1:c.545G>A, XM_011527539.4:c.545G>A, XM_011527539.3:c.545G>A, XM_011527539.2:c.545G>A, XM_011527539.1:c.545G>A, XM_011527537.3:c.437G>A, XM_011527537.2:c.437G>A, XM_011527537.1:c.437G>A, XM_017027511.3:c.545G>A, XM_017027511.2:c.545G>A, XM_017027511.1:c.545G>A, XM_047439734.1:c.512G>A, XM_047439736.1:c.545G>A, XM_047439735.1:c.545G>A, XR_007067048.1:n.567G>A, NP_001236.4:p.Trp182Ter, NP_942142.3:p.Trp182Ter, NP_942143.3:p.Trp182Ter, NP_001171019.1:p.Trp182Ter, NP_001171018.1:p.Trp146Ter, NP_001171020.1:p.Trp171Ter, XP_011525835.1:p.Trp182Ter, XP_011525837.1:p.Trp171Ter, XP_011525838.1:p.Trp146Ter, XP_011525840.1:p.Trp182Ter, XP_011525841.1:p.Trp182Ter, XP_011525839.1:p.Trp146Ter, XP_016883000.1:p.Trp182Ter, XP_047295690.1:p.Trp171Ter, XP_047295692.1:p.Trp182Ter, XP_047295691.1:p.Trp182Ter

          5.

          rs1475790951 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:51531484 (GRCh38)
            19:52034738 (GRCh37)
            Canonical SPDI:
            NC_000019.10:51531483:C:T
            Gene:
            SIGLEC6 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
            HGVS:
            NC_000019.10:g.51531484C>T, NC_000019.9:g.52034738C>T, NG_051195.1:g.5376G>A, NM_001245.7:c.103G>A, NM_001245.6:c.103G>A, NM_001245.5:c.103G>A, NM_198845.6:c.103G>A, NM_198845.5:c.103G>A, NM_198845.4:c.103G>A, NM_198846.6:c.103G>A, NM_198846.5:c.103G>A, NM_198846.4:c.103G>A, NM_001177548.3:c.103G>A, NM_001177548.2:c.103G>A, NM_001177548.1:c.103G>A, NM_001177549.3:c.103G>A, NM_001177549.2:c.103G>A, NM_001177549.1:c.103G>A, XM_011527533.4:c.103G>A, XM_011527533.3:c.103G>A, XM_011527533.2:c.103G>A, XM_011527533.1:c.103G>A, XM_011527535.4:c.103G>A, XM_011527535.3:c.103G>A, XM_011527535.2:c.103G>A, XM_011527535.1:c.103G>A, XM_011527538.4:c.103G>A, XM_011527538.3:c.103G>A, XM_011527538.2:c.103G>A, XM_011527538.1:c.103G>A, XM_011527539.4:c.103G>A, XM_011527539.3:c.103G>A, XM_011527539.2:c.103G>A, XM_011527539.1:c.103G>A, XM_017027511.3:c.103G>A, XM_017027511.2:c.103G>A, XM_017027511.1:c.103G>A, XM_047439734.1:c.103G>A, XM_047439736.1:c.103G>A, XM_047439735.1:c.103G>A, XR_007067048.1:n.125G>A, NP_001236.4:p.Gly35Arg, NP_942142.3:p.Gly35Arg, NP_942143.3:p.Gly35Arg, NP_001171019.1:p.Gly35Arg, NP_001171020.1:p.Gly35Arg, XP_011525835.1:p.Gly35Arg, XP_011525837.1:p.Gly35Arg, XP_011525840.1:p.Gly35Arg, XP_011525841.1:p.Gly35Arg, XP_016883000.1:p.Gly35Arg, XP_047295690.1:p.Gly35Arg, XP_047295692.1:p.Gly35Arg, XP_047295691.1:p.Gly35Arg

            6.

            rs1474174287 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              19:51531195 (GRCh38)
              19:52034449 (GRCh37)
              Canonical SPDI:
              NC_000019.10:51531194:C:A
              Gene:
              SIGLEC6 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.51531195C>A, NC_000019.9:g.52034449C>A, NG_051195.1:g.5665G>T, NM_001245.7:c.392G>T, NM_001245.6:c.392G>T, NM_001245.5:c.392G>T, NM_198845.6:c.392G>T, NM_198845.5:c.392G>T, NM_198845.4:c.392G>T, NM_198846.6:c.392G>T, NM_198846.5:c.392G>T, NM_198846.4:c.392G>T, NM_001177548.3:c.392G>T, NM_001177548.2:c.392G>T, NM_001177548.1:c.392G>T, NM_001177547.3:c.284G>T, NM_001177547.2:c.284G>T, NM_001177547.1:c.284G>T, NM_001177549.3:c.392G>T, NM_001177549.2:c.392G>T, NM_001177549.1:c.392G>T, XM_011527533.4:c.392G>T, XM_011527533.3:c.392G>T, XM_011527533.2:c.392G>T, XM_011527533.1:c.392G>T, XM_011527535.4:c.392G>T, XM_011527535.3:c.392G>T, XM_011527535.2:c.392G>T, XM_011527535.1:c.392G>T, XM_011527536.4:c.284G>T, XM_011527536.3:c.284G>T, XM_011527536.2:c.284G>T, XM_011527536.1:c.284G>T, XM_011527538.4:c.392G>T, XM_011527538.3:c.392G>T, XM_011527538.2:c.392G>T, XM_011527538.1:c.392G>T, XM_011527539.4:c.392G>T, XM_011527539.3:c.392G>T, XM_011527539.2:c.392G>T, XM_011527539.1:c.392G>T, XM_011527537.3:c.284G>T, XM_011527537.2:c.284G>T, XM_011527537.1:c.284G>T, XM_017027511.3:c.392G>T, XM_017027511.2:c.392G>T, XM_017027511.1:c.392G>T, XM_047439734.1:c.392G>T, XM_047439736.1:c.392G>T, XM_047439735.1:c.392G>T, XR_007067048.1:n.414G>T, NP_001236.4:p.Gly131Val, NP_942142.3:p.Gly131Val, NP_942143.3:p.Gly131Val, NP_001171019.1:p.Gly131Val, NP_001171018.1:p.Gly95Val, NP_001171020.1:p.Gly131Val, XP_011525835.1:p.Gly131Val, XP_011525837.1:p.Gly131Val, XP_011525838.1:p.Gly95Val, XP_011525840.1:p.Gly131Val, XP_011525841.1:p.Gly131Val, XP_011525839.1:p.Gly95Val, XP_016883000.1:p.Gly131Val, XP_047295690.1:p.Gly131Val, XP_047295692.1:p.Gly131Val, XP_047295691.1:p.Gly131Val

              7.

              rs1468402009 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                19:51529890 (GRCh38)
                19:52033144 (GRCh37)
                Canonical SPDI:
                NC_000019.10:51529889:T:A,NC_000019.10:51529889:T:G
                Gene:
                SIGLEC6 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000019.10:g.51529890T>A, NC_000019.10:g.51529890T>G, NC_000019.9:g.52033144T>A, NC_000019.9:g.52033144T>G, NG_051195.1:g.6970A>T, NG_051195.1:g.6970A>C, NM_001245.7:c.846A>T, NM_001245.7:c.846A>C, NM_001245.6:c.846A>T, NM_001245.6:c.846A>C, NM_001245.5:c.846A>T, NM_001245.5:c.846A>C, NM_198845.6:c.798A>T, NM_198845.6:c.798A>C, NM_198845.5:c.798A>T, NM_198845.5:c.798A>C, NM_198845.4:c.798A>T, NM_198845.4:c.798A>C, NM_198846.6:c.846A>T, NM_198846.6:c.846A>C, NM_198846.5:c.846A>T, NM_198846.5:c.846A>C, NM_198846.4:c.846A>T, NM_198846.4:c.846A>C, NM_001177548.3:c.879A>T, NM_001177548.3:c.879A>C, NM_001177548.2:c.879A>T, NM_001177548.2:c.879A>C, NM_001177548.1:c.879A>T, NM_001177548.1:c.879A>C, NM_001177547.3:c.690A>T, NM_001177547.3:c.690A>C, NM_001177547.2:c.690A>T, NM_001177547.2:c.690A>C, NM_001177547.1:c.690A>T, NM_001177547.1:c.690A>C, NM_001177549.3:c.813A>T, NM_001177549.3:c.813A>C, NM_001177549.2:c.813A>T, NM_001177549.2:c.813A>C, NM_001177549.1:c.813A>T, NM_001177549.1:c.813A>C, XM_011527533.4:c.879A>T, XM_011527533.4:c.879A>C, XM_011527533.3:c.879A>T, XM_011527533.3:c.879A>C, XM_011527533.2:c.879A>T, XM_011527533.2:c.879A>C, XM_011527533.1:c.879A>T, XM_011527533.1:c.879A>C, XM_011527535.4:c.846A>T, XM_011527535.4:c.846A>C, XM_011527535.3:c.846A>T, XM_011527535.3:c.846A>C, XM_011527535.2:c.846A>T, XM_011527535.2:c.846A>C, XM_011527535.1:c.846A>T, XM_011527535.1:c.846A>C, XM_011527536.4:c.771A>T, XM_011527536.4:c.771A>C, XM_011527536.3:c.771A>T, XM_011527536.3:c.771A>C, XM_011527536.2:c.771A>T, XM_011527536.2:c.771A>C, XM_011527536.1:c.771A>T, XM_011527536.1:c.771A>C, XM_011527538.4:c.879A>T, XM_011527538.4:c.879A>C, XM_011527538.3:c.879A>T, XM_011527538.3:c.879A>C, XM_011527538.2:c.879A>T, XM_011527538.2:c.879A>C, XM_011527538.1:c.879A>T, XM_011527538.1:c.879A>C, XM_011527537.3:c.738A>T, XM_011527537.3:c.738A>C, XM_011527537.2:c.738A>T, XM_011527537.2:c.738A>C, XM_011527537.1:c.738A>T, XM_011527537.1:c.738A>C, XM_017027511.3:c.879A>T, XM_017027511.3:c.879A>C, XM_017027511.2:c.879A>T, XM_017027511.2:c.879A>C, XM_017027511.1:c.879A>T, XM_017027511.1:c.879A>C, XM_047439734.1:c.813A>T, XM_047439734.1:c.813A>C, XM_047439736.1:c.798A>T, XM_047439736.1:c.798A>C, XM_047439735.1:c.879A>T, XM_047439735.1:c.879A>C, XR_007067048.1:n.901A>T, XR_007067048.1:n.901A>C

                8.

                rs1462904050 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  19:51530958 (GRCh38)
                  19:52034212 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:51530957:G:A,NC_000019.10:51530957:G:T
                  Gene:
                  SIGLEC6 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000019.10:g.51530958G>A, NC_000019.10:g.51530958G>T, NC_000019.9:g.52034212G>A, NC_000019.9:g.52034212G>T, NG_051195.1:g.5902C>T, NG_051195.1:g.5902C>A, NM_001245.7:c.429C>T, NM_001245.7:c.429C>A, NM_001245.6:c.429C>T, NM_001245.6:c.429C>A, NM_001245.5:c.429C>T, NM_001245.5:c.429C>A, NM_198845.6:c.429C>T, NM_198845.6:c.429C>A, NM_198845.5:c.429C>T, NM_198845.5:c.429C>A, NM_198845.4:c.429C>T, NM_198845.4:c.429C>A, NM_198846.6:c.429C>T, NM_198846.6:c.429C>A, NM_198846.5:c.429C>T, NM_198846.5:c.429C>A, NM_198846.4:c.429C>T, NM_198846.4:c.429C>A, NM_001177548.3:c.429C>T, NM_001177548.3:c.429C>A, NM_001177548.2:c.429C>T, NM_001177548.2:c.429C>A, NM_001177548.1:c.429C>T, NM_001177548.1:c.429C>A, NM_001177547.3:c.321C>T, NM_001177547.3:c.321C>A, NM_001177547.2:c.321C>T, NM_001177547.2:c.321C>A, NM_001177547.1:c.321C>T, NM_001177547.1:c.321C>A, XM_011527533.4:c.429C>T, XM_011527533.4:c.429C>A, XM_011527533.3:c.429C>T, XM_011527533.3:c.429C>A, XM_011527533.2:c.429C>T, XM_011527533.2:c.429C>A, XM_011527533.1:c.429C>T, XM_011527533.1:c.429C>A, XM_011527536.4:c.321C>T, XM_011527536.4:c.321C>A, XM_011527536.3:c.321C>T, XM_011527536.3:c.321C>A, XM_011527536.2:c.321C>T, XM_011527536.2:c.321C>A, XM_011527536.1:c.321C>T, XM_011527536.1:c.321C>A, XM_011527538.4:c.429C>T, XM_011527538.4:c.429C>A, XM_011527538.3:c.429C>T, XM_011527538.3:c.429C>A, XM_011527538.2:c.429C>T, XM_011527538.2:c.429C>A, XM_011527538.1:c.429C>T, XM_011527538.1:c.429C>A, XM_011527539.4:c.429C>T, XM_011527539.4:c.429C>A, XM_011527539.3:c.429C>T, XM_011527539.3:c.429C>A, XM_011527539.2:c.429C>T, XM_011527539.2:c.429C>A, XM_011527539.1:c.429C>T, XM_011527539.1:c.429C>A, XM_011527537.3:c.321C>T, XM_011527537.3:c.321C>A, XM_011527537.2:c.321C>T, XM_011527537.2:c.321C>A, XM_011527537.1:c.321C>T, XM_011527537.1:c.321C>A, XM_017027511.3:c.429C>T, XM_017027511.3:c.429C>A, XM_017027511.2:c.429C>T, XM_017027511.2:c.429C>A, XM_017027511.1:c.429C>T, XM_017027511.1:c.429C>A, XM_047439736.1:c.429C>T, XM_047439736.1:c.429C>A, XM_047439735.1:c.429C>T, XM_047439735.1:c.429C>A, XR_007067048.1:n.451C>T, XR_007067048.1:n.451C>A

                  9.

                  rs1459789140 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:51529909 (GRCh38)
                    19:52033163 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:51529908:G:A
                    Gene:
                    SIGLEC6 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000019.10:g.51529909G>A, NC_000019.9:g.52033163G>A, NG_051195.1:g.6951C>T, NM_001245.7:c.827C>T, NM_001245.6:c.827C>T, NM_001245.5:c.827C>T, NM_198845.6:c.779C>T, NM_198845.5:c.779C>T, NM_198845.4:c.779C>T, NM_198846.6:c.827C>T, NM_198846.5:c.827C>T, NM_198846.4:c.827C>T, NM_001177548.3:c.860C>T, NM_001177548.2:c.860C>T, NM_001177548.1:c.860C>T, NM_001177547.3:c.671C>T, NM_001177547.2:c.671C>T, NM_001177547.1:c.671C>T, NM_001177549.3:c.794C>T, NM_001177549.2:c.794C>T, NM_001177549.1:c.794C>T, XM_011527533.4:c.860C>T, XM_011527533.3:c.860C>T, XM_011527533.2:c.860C>T, XM_011527533.1:c.860C>T, XM_011527535.4:c.827C>T, XM_011527535.3:c.827C>T, XM_011527535.2:c.827C>T, XM_011527535.1:c.827C>T, XM_011527536.4:c.752C>T, XM_011527536.3:c.752C>T, XM_011527536.2:c.752C>T, XM_011527536.1:c.752C>T, XM_011527538.4:c.860C>T, XM_011527538.3:c.860C>T, XM_011527538.2:c.860C>T, XM_011527538.1:c.860C>T, XM_011527537.3:c.719C>T, XM_011527537.2:c.719C>T, XM_011527537.1:c.719C>T, XM_017027511.3:c.860C>T, XM_017027511.2:c.860C>T, XM_017027511.1:c.860C>T, XM_047439734.1:c.794C>T, XM_047439736.1:c.779C>T, XM_047439735.1:c.860C>T, XR_007067048.1:n.882C>T, NP_001236.4:p.Ala276Val, NP_942142.3:p.Ala260Val, NP_942143.3:p.Ala276Val, NP_001171019.1:p.Ala287Val, NP_001171018.1:p.Ala224Val, NP_001171020.1:p.Ala265Val, XP_011525835.1:p.Ala287Val, XP_011525837.1:p.Ala276Val, XP_011525838.1:p.Ala251Val, XP_011525840.1:p.Ala287Val, XP_011525839.1:p.Ala240Val, XP_016883000.1:p.Ala287Val, XP_047295690.1:p.Ala265Val, XP_047295692.1:p.Ala260Val, XP_047295691.1:p.Ala287Val

                    10.

                    rs1457326582 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:51531619 (GRCh38)
                      19:52034873 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:51531618:T:C
                      Gene:
                      SIGLEC6 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.51531619T>C, NC_000019.9:g.52034873T>C, NG_051195.1:g.5241A>G, NM_001245.7:c.30A>G, NM_001245.6:c.30A>G, NM_001245.5:c.30A>G, NM_198845.6:c.30A>G, NM_198845.5:c.30A>G, NM_198845.4:c.30A>G, NM_198846.6:c.30A>G, NM_198846.5:c.30A>G, NM_198846.4:c.30A>G, NM_001177548.3:c.30A>G, NM_001177548.2:c.30A>G, NM_001177548.1:c.30A>G, NM_001177547.3:c.30A>G, NM_001177547.2:c.30A>G, NM_001177547.1:c.30A>G, NM_001177549.3:c.30A>G, NM_001177549.2:c.30A>G, NM_001177549.1:c.30A>G, XM_011527533.4:c.30A>G, XM_011527533.3:c.30A>G, XM_011527533.2:c.30A>G, XM_011527533.1:c.30A>G, XM_011527535.4:c.30A>G, XM_011527535.3:c.30A>G, XM_011527535.2:c.30A>G, XM_011527535.1:c.30A>G, XM_011527536.4:c.30A>G, XM_011527536.3:c.30A>G, XM_011527536.2:c.30A>G, XM_011527536.1:c.30A>G, XM_011527538.4:c.30A>G, XM_011527538.3:c.30A>G, XM_011527538.2:c.30A>G, XM_011527538.1:c.30A>G, XM_011527539.4:c.30A>G, XM_011527539.3:c.30A>G, XM_011527539.2:c.30A>G, XM_011527539.1:c.30A>G, XM_011527537.3:c.30A>G, XM_011527537.2:c.30A>G, XM_011527537.1:c.30A>G, XM_017027511.3:c.30A>G, XM_017027511.2:c.30A>G, XM_017027511.1:c.30A>G, XM_047439734.1:c.30A>G, XM_047439736.1:c.30A>G, XM_047439735.1:c.30A>G, XR_007067048.1:n.52A>G

                      11.

                      rs1454007812 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:51530691 (GRCh38)
                        19:52033945 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:51530690:G:A
                        Gene:
                        SIGLEC6 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000019.10:g.51530691G>A, NC_000019.9:g.52033945G>A, NG_051195.1:g.6169C>T, NM_001245.7:c.696C>T, NM_001245.6:c.696C>T, NM_001245.5:c.696C>T, NM_198845.6:c.696C>T, NM_198845.5:c.696C>T, NM_198845.4:c.696C>T, NM_198846.6:c.696C>T, NM_198846.5:c.696C>T, NM_198846.4:c.696C>T, NM_001177548.3:c.696C>T, NM_001177548.2:c.696C>T, NM_001177548.1:c.696C>T, NM_001177547.3:c.588C>T, NM_001177547.2:c.588C>T, NM_001177547.1:c.588C>T, NM_001177549.3:c.663C>T, NM_001177549.2:c.663C>T, NM_001177549.1:c.663C>T, XM_011527533.4:c.696C>T, XM_011527533.3:c.696C>T, XM_011527533.2:c.696C>T, XM_011527533.1:c.696C>T, XM_011527535.4:c.663C>T, XM_011527535.3:c.663C>T, XM_011527535.2:c.663C>T, XM_011527535.1:c.663C>T, XM_011527536.4:c.588C>T, XM_011527536.3:c.588C>T, XM_011527536.2:c.588C>T, XM_011527536.1:c.588C>T, XM_011527538.4:c.696C>T, XM_011527538.3:c.696C>T, XM_011527538.2:c.696C>T, XM_011527538.1:c.696C>T, XM_011527539.4:c.696C>T, XM_011527539.3:c.696C>T, XM_011527539.2:c.696C>T, XM_011527539.1:c.696C>T, XM_011527537.3:c.588C>T, XM_011527537.2:c.588C>T, XM_011527537.1:c.588C>T, XM_017027511.3:c.696C>T, XM_017027511.2:c.696C>T, XM_017027511.1:c.696C>T, XM_047439734.1:c.663C>T, XM_047439736.1:c.696C>T, XM_047439735.1:c.696C>T, XR_007067048.1:n.718C>T

                        12.

                        rs1450497281 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          19:51531346 (GRCh38)
                          19:52034600 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:51531345:G:C,NC_000019.10:51531345:G:T
                          Gene:
                          SIGLEC6 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000019.10:g.51531346G>C, NC_000019.10:g.51531346G>T, NC_000019.9:g.52034600G>C, NC_000019.9:g.52034600G>T, NG_051195.1:g.5514C>G, NG_051195.1:g.5514C>A, NM_001245.7:c.241C>G, NM_001245.7:c.241C>A, NM_001245.6:c.241C>G, NM_001245.6:c.241C>A, NM_001245.5:c.241C>G, NM_001245.5:c.241C>A, NM_198845.6:c.241C>G, NM_198845.6:c.241C>A, NM_198845.5:c.241C>G, NM_198845.5:c.241C>A, NM_198845.4:c.241C>G, NM_198845.4:c.241C>A, NM_198846.6:c.241C>G, NM_198846.6:c.241C>A, NM_198846.5:c.241C>G, NM_198846.5:c.241C>A, NM_198846.4:c.241C>G, NM_198846.4:c.241C>A, NM_001177548.3:c.241C>G, NM_001177548.3:c.241C>A, NM_001177548.2:c.241C>G, NM_001177548.2:c.241C>A, NM_001177548.1:c.241C>G, NM_001177548.1:c.241C>A, NM_001177547.3:c.133C>G, NM_001177547.3:c.133C>A, NM_001177547.2:c.133C>G, NM_001177547.2:c.133C>A, NM_001177547.1:c.133C>G, NM_001177547.1:c.133C>A, NM_001177549.3:c.241C>G, NM_001177549.3:c.241C>A, NM_001177549.2:c.241C>G, NM_001177549.2:c.241C>A, NM_001177549.1:c.241C>G, NM_001177549.1:c.241C>A, XM_011527533.4:c.241C>G, XM_011527533.4:c.241C>A, XM_011527533.3:c.241C>G, XM_011527533.3:c.241C>A, XM_011527533.2:c.241C>G, XM_011527533.2:c.241C>A, XM_011527533.1:c.241C>G, XM_011527533.1:c.241C>A, XM_011527535.4:c.241C>G, XM_011527535.4:c.241C>A, XM_011527535.3:c.241C>G, XM_011527535.3:c.241C>A, XM_011527535.2:c.241C>G, XM_011527535.2:c.241C>A, XM_011527535.1:c.241C>G, XM_011527535.1:c.241C>A, XM_011527536.4:c.133C>G, XM_011527536.4:c.133C>A, XM_011527536.3:c.133C>G, XM_011527536.3:c.133C>A, XM_011527536.2:c.133C>G, XM_011527536.2:c.133C>A, XM_011527536.1:c.133C>G, XM_011527536.1:c.133C>A, XM_011527538.4:c.241C>G, XM_011527538.4:c.241C>A, XM_011527538.3:c.241C>G, XM_011527538.3:c.241C>A, XM_011527538.2:c.241C>G, XM_011527538.2:c.241C>A, XM_011527538.1:c.241C>G, XM_011527538.1:c.241C>A, XM_011527539.4:c.241C>G, XM_011527539.4:c.241C>A, XM_011527539.3:c.241C>G, XM_011527539.3:c.241C>A, XM_011527539.2:c.241C>G, XM_011527539.2:c.241C>A, XM_011527539.1:c.241C>G, XM_011527539.1:c.241C>A, XM_011527537.3:c.133C>G, XM_011527537.3:c.133C>A, XM_011527537.2:c.133C>G, XM_011527537.2:c.133C>A, XM_011527537.1:c.133C>G, XM_011527537.1:c.133C>A, XM_017027511.3:c.241C>G, XM_017027511.3:c.241C>A, XM_017027511.2:c.241C>G, XM_017027511.2:c.241C>A, XM_017027511.1:c.241C>G, XM_017027511.1:c.241C>A, XM_047439734.1:c.241C>G, XM_047439734.1:c.241C>A, XM_047439736.1:c.241C>G, XM_047439736.1:c.241C>A, XM_047439735.1:c.241C>G, XM_047439735.1:c.241C>A, XR_007067048.1:n.263C>G, XR_007067048.1:n.263C>A, NP_001236.4:p.Pro81Ala, NP_001236.4:p.Pro81Thr, NP_942142.3:p.Pro81Ala, NP_942142.3:p.Pro81Thr, NP_942143.3:p.Pro81Ala, NP_942143.3:p.Pro81Thr, NP_001171019.1:p.Pro81Ala, NP_001171019.1:p.Pro81Thr, NP_001171018.1:p.Pro45Ala, NP_001171018.1:p.Pro45Thr, NP_001171020.1:p.Pro81Ala, NP_001171020.1:p.Pro81Thr, XP_011525835.1:p.Pro81Ala, XP_011525835.1:p.Pro81Thr, XP_011525837.1:p.Pro81Ala, XP_011525837.1:p.Pro81Thr, XP_011525838.1:p.Pro45Ala, XP_011525838.1:p.Pro45Thr, XP_011525840.1:p.Pro81Ala, XP_011525840.1:p.Pro81Thr, XP_011525841.1:p.Pro81Ala, XP_011525841.1:p.Pro81Thr, XP_011525839.1:p.Pro45Ala, XP_011525839.1:p.Pro45Thr, XP_016883000.1:p.Pro81Ala, XP_016883000.1:p.Pro81Thr, XP_047295690.1:p.Pro81Ala, XP_047295690.1:p.Pro81Thr, XP_047295692.1:p.Pro81Ala, XP_047295692.1:p.Pro81Thr, XP_047295691.1:p.Pro81Ala, XP_047295691.1:p.Pro81Thr

                          13.

                          rs1450061497 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            19:51531409 (GRCh38)
                            19:52034663 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:51531408:A:T
                            Gene:
                            SIGLEC6 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000019.10:g.51531409A>T, NC_000019.9:g.52034663A>T, NG_051195.1:g.5451T>A, NM_001245.7:c.178T>A, NM_001245.6:c.178T>A, NM_001245.5:c.178T>A, NM_198845.6:c.178T>A, NM_198845.5:c.178T>A, NM_198845.4:c.178T>A, NM_198846.6:c.178T>A, NM_198846.5:c.178T>A, NM_198846.4:c.178T>A, NM_001177548.3:c.178T>A, NM_001177548.2:c.178T>A, NM_001177548.1:c.178T>A, NM_001177547.3:c.70T>A, NM_001177547.2:c.70T>A, NM_001177547.1:c.70T>A, NM_001177549.3:c.178T>A, NM_001177549.2:c.178T>A, NM_001177549.1:c.178T>A, XM_011527533.4:c.178T>A, XM_011527533.3:c.178T>A, XM_011527533.2:c.178T>A, XM_011527533.1:c.178T>A, XM_011527535.4:c.178T>A, XM_011527535.3:c.178T>A, XM_011527535.2:c.178T>A, XM_011527535.1:c.178T>A, XM_011527536.4:c.70T>A, XM_011527536.3:c.70T>A, XM_011527536.2:c.70T>A, XM_011527536.1:c.70T>A, XM_011527538.4:c.178T>A, XM_011527538.3:c.178T>A, XM_011527538.2:c.178T>A, XM_011527538.1:c.178T>A, XM_011527539.4:c.178T>A, XM_011527539.3:c.178T>A, XM_011527539.2:c.178T>A, XM_011527539.1:c.178T>A, XM_011527537.3:c.70T>A, XM_011527537.2:c.70T>A, XM_011527537.1:c.70T>A, XM_017027511.3:c.178T>A, XM_017027511.2:c.178T>A, XM_017027511.1:c.178T>A, XM_047439734.1:c.178T>A, XM_047439736.1:c.178T>A, XM_047439735.1:c.178T>A, XR_007067048.1:n.200T>A, NP_001236.4:p.Ser60Thr, NP_942142.3:p.Ser60Thr, NP_942143.3:p.Ser60Thr, NP_001171019.1:p.Ser60Thr, NP_001171018.1:p.Ser24Thr, NP_001171020.1:p.Ser60Thr, XP_011525835.1:p.Ser60Thr, XP_011525837.1:p.Ser60Thr, XP_011525838.1:p.Ser24Thr, XP_011525840.1:p.Ser60Thr, XP_011525841.1:p.Ser60Thr, XP_011525839.1:p.Ser24Thr, XP_016883000.1:p.Ser60Thr, XP_047295690.1:p.Ser60Thr, XP_047295692.1:p.Ser60Thr, XP_047295691.1:p.Ser60Thr

                            14.

                            rs1446823183 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:51530438 (GRCh38)
                              19:52033692 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:51530437:T:C
                              Gene:
                              SIGLEC6 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000019.10:g.51530438T>C, NC_000019.9:g.52033692T>C, NG_051195.1:g.6422A>G, NM_001245.7:c.753A>G, NM_001245.6:c.753A>G, NM_001245.5:c.753A>G, NM_198846.6:c.753A>G, NM_198846.5:c.753A>G, NM_198846.4:c.753A>G, NM_001177548.3:c.786A>G, NM_001177548.2:c.786A>G, NM_001177548.1:c.786A>G, NM_001177549.3:c.720A>G, NM_001177549.2:c.720A>G, NM_001177549.1:c.720A>G, XM_011527533.4:c.786A>G, XM_011527533.3:c.786A>G, XM_011527533.2:c.786A>G, XM_011527533.1:c.786A>G, XM_011527535.4:c.753A>G, XM_011527535.3:c.753A>G, XM_011527535.2:c.753A>G, XM_011527535.1:c.753A>G, XM_011527536.4:c.678A>G, XM_011527536.3:c.678A>G, XM_011527536.2:c.678A>G, XM_011527536.1:c.678A>G, XM_011527538.4:c.786A>G, XM_011527538.3:c.786A>G, XM_011527538.2:c.786A>G, XM_011527538.1:c.786A>G, XM_011527537.3:c.645A>G, XM_011527537.2:c.645A>G, XM_011527537.1:c.645A>G, XM_017027511.3:c.786A>G, XM_017027511.2:c.786A>G, XM_017027511.1:c.786A>G, XM_047439734.1:c.720A>G, XM_047439735.1:c.786A>G, XR_007067048.1:n.808A>G

                              15.

                              rs1446233099 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:51529829 (GRCh38)
                                19:52033083 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:51529828:C:T
                                Gene:
                                SIGLEC6 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000019.10:g.51529829C>T, NC_000019.9:g.52033083C>T, NG_051195.1:g.7031G>A, NM_001245.7:c.907G>A, NM_001245.6:c.907G>A, NM_001245.5:c.907G>A, NM_198845.6:c.859G>A, NM_198845.5:c.859G>A, NM_198845.4:c.859G>A, NM_198846.6:c.907G>A, NM_198846.5:c.907G>A, NM_198846.4:c.907G>A, NM_001177548.3:c.940G>A, NM_001177548.2:c.940G>A, NM_001177548.1:c.940G>A, NM_001177547.3:c.751G>A, NM_001177547.2:c.751G>A, NM_001177547.1:c.751G>A, NM_001177549.3:c.874G>A, NM_001177549.2:c.874G>A, NM_001177549.1:c.874G>A, XM_011527533.4:c.940G>A, XM_011527533.3:c.940G>A, XM_011527533.2:c.940G>A, XM_011527533.1:c.940G>A, XM_011527535.4:c.907G>A, XM_011527535.3:c.907G>A, XM_011527535.2:c.907G>A, XM_011527535.1:c.907G>A, XM_011527536.4:c.832G>A, XM_011527536.3:c.832G>A, XM_011527536.2:c.832G>A, XM_011527536.1:c.832G>A, XM_011527538.4:c.940G>A, XM_011527538.3:c.940G>A, XM_011527538.2:c.940G>A, XM_011527538.1:c.940G>A, XM_011527537.3:c.799G>A, XM_011527537.2:c.799G>A, XM_011527537.1:c.799G>A, XM_017027511.3:c.940G>A, XM_017027511.2:c.940G>A, XM_017027511.1:c.940G>A, XM_047439734.1:c.874G>A, XM_047439736.1:c.859G>A, XM_047439735.1:c.940G>A, XR_007067048.1:n.962G>A, NP_001236.4:p.Val303Ile, NP_942142.3:p.Val287Ile, NP_942143.3:p.Val303Ile, NP_001171019.1:p.Val314Ile, NP_001171018.1:p.Val251Ile, NP_001171020.1:p.Val292Ile, XP_011525835.1:p.Val314Ile, XP_011525837.1:p.Val303Ile, XP_011525838.1:p.Val278Ile, XP_011525840.1:p.Val314Ile, XP_011525839.1:p.Val267Ile, XP_016883000.1:p.Val314Ile, XP_047295690.1:p.Val292Ile, XP_047295692.1:p.Val287Ile, XP_047295691.1:p.Val314Ile

                                16.

                                rs1445024121 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:51529959 (GRCh38)
                                  19:52033213 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:51529958:G:A
                                  Gene:
                                  SIGLEC6 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.51529959G>A, NC_000019.9:g.52033213G>A, NG_051195.1:g.6901C>T, NM_001245.7:c.777C>T, NM_001245.6:c.777C>T, NM_001245.5:c.777C>T, NM_198845.6:c.729C>T, NM_198845.5:c.729C>T, NM_198845.4:c.729C>T, NM_198846.6:c.777C>T, NM_198846.5:c.777C>T, NM_198846.4:c.777C>T, NM_001177548.3:c.810C>T, NM_001177548.2:c.810C>T, NM_001177548.1:c.810C>T, NM_001177547.3:c.621C>T, NM_001177547.2:c.621C>T, NM_001177547.1:c.621C>T, NM_001177549.3:c.744C>T, NM_001177549.2:c.744C>T, NM_001177549.1:c.744C>T, XM_011527533.4:c.810C>T, XM_011527533.3:c.810C>T, XM_011527533.2:c.810C>T, XM_011527533.1:c.810C>T, XM_011527535.4:c.777C>T, XM_011527535.3:c.777C>T, XM_011527535.2:c.777C>T, XM_011527535.1:c.777C>T, XM_011527536.4:c.702C>T, XM_011527536.3:c.702C>T, XM_011527536.2:c.702C>T, XM_011527536.1:c.702C>T, XM_011527538.4:c.810C>T, XM_011527538.3:c.810C>T, XM_011527538.2:c.810C>T, XM_011527538.1:c.810C>T, XM_011527537.3:c.669C>T, XM_011527537.2:c.669C>T, XM_011527537.1:c.669C>T, XM_017027511.3:c.810C>T, XM_017027511.2:c.810C>T, XM_017027511.1:c.810C>T, XM_047439734.1:c.744C>T, XM_047439736.1:c.729C>T, XM_047439735.1:c.810C>T, XR_007067048.1:n.832C>T

                                  17.

                                  rs1442803272 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:51531611 (GRCh38)
                                    19:52034865 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:51531610:A:G
                                    Gene:
                                    SIGLEC6 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.51531611A>G, NC_000019.9:g.52034865A>G, NG_051195.1:g.5249T>C, NM_001245.7:c.38T>C, NM_001245.6:c.38T>C, NM_001245.5:c.38T>C, NM_198845.6:c.38T>C, NM_198845.5:c.38T>C, NM_198845.4:c.38T>C, NM_198846.6:c.38T>C, NM_198846.5:c.38T>C, NM_198846.4:c.38T>C, NM_001177548.3:c.38T>C, NM_001177548.2:c.38T>C, NM_001177548.1:c.38T>C, NM_001177547.3:c.38T>C, NM_001177547.2:c.38T>C, NM_001177547.1:c.38T>C, NM_001177549.3:c.38T>C, NM_001177549.2:c.38T>C, NM_001177549.1:c.38T>C, XM_011527533.4:c.38T>C, XM_011527533.3:c.38T>C, XM_011527533.2:c.38T>C, XM_011527533.1:c.38T>C, XM_011527535.4:c.38T>C, XM_011527535.3:c.38T>C, XM_011527535.2:c.38T>C, XM_011527535.1:c.38T>C, XM_011527536.4:c.38T>C, XM_011527536.3:c.38T>C, XM_011527536.2:c.38T>C, XM_011527536.1:c.38T>C, XM_011527538.4:c.38T>C, XM_011527538.3:c.38T>C, XM_011527538.2:c.38T>C, XM_011527538.1:c.38T>C, XM_011527539.4:c.38T>C, XM_011527539.3:c.38T>C, XM_011527539.2:c.38T>C, XM_011527539.1:c.38T>C, XM_011527537.3:c.38T>C, XM_011527537.2:c.38T>C, XM_011527537.1:c.38T>C, XM_017027511.3:c.38T>C, XM_017027511.2:c.38T>C, XM_017027511.1:c.38T>C, XM_047439734.1:c.38T>C, XM_047439736.1:c.38T>C, XM_047439735.1:c.38T>C, XR_007067048.1:n.60T>C, NP_001236.4:p.Leu13Pro, NP_942142.3:p.Leu13Pro, NP_942143.3:p.Leu13Pro, NP_001171019.1:p.Leu13Pro, NP_001171018.1:p.Leu13Pro, NP_001171020.1:p.Leu13Pro, XP_011525835.1:p.Leu13Pro, XP_011525837.1:p.Leu13Pro, XP_011525838.1:p.Leu13Pro, XP_011525840.1:p.Leu13Pro, XP_011525841.1:p.Leu13Pro, XP_011525839.1:p.Leu13Pro, XP_016883000.1:p.Leu13Pro, XP_047295690.1:p.Leu13Pro, XP_047295692.1:p.Leu13Pro, XP_047295691.1:p.Leu13Pro

                                    18.

                                    rs1441346261 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      19:51531438 (GRCh38)
                                      19:52034692 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:51531437:G:C
                                      Gene:
                                      SIGLEC6 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000019.10:g.51531438G>C, NC_000019.9:g.52034692G>C, NG_051195.1:g.5422C>G, NM_001245.7:c.149C>G, NM_001245.6:c.149C>G, NM_001245.5:c.149C>G, NM_198845.6:c.149C>G, NM_198845.5:c.149C>G, NM_198845.4:c.149C>G, NM_198846.6:c.149C>G, NM_198846.5:c.149C>G, NM_198846.4:c.149C>G, NM_001177548.3:c.149C>G, NM_001177548.2:c.149C>G, NM_001177548.1:c.149C>G, NM_001177549.3:c.149C>G, NM_001177549.2:c.149C>G, NM_001177549.1:c.149C>G, XM_011527533.4:c.149C>G, XM_011527533.3:c.149C>G, XM_011527533.2:c.149C>G, XM_011527533.1:c.149C>G, XM_011527535.4:c.149C>G, XM_011527535.3:c.149C>G, XM_011527535.2:c.149C>G, XM_011527535.1:c.149C>G, XM_011527538.4:c.149C>G, XM_011527538.3:c.149C>G, XM_011527538.2:c.149C>G, XM_011527538.1:c.149C>G, XM_011527539.4:c.149C>G, XM_011527539.3:c.149C>G, XM_011527539.2:c.149C>G, XM_011527539.1:c.149C>G, XM_017027511.3:c.149C>G, XM_017027511.2:c.149C>G, XM_017027511.1:c.149C>G, XM_047439734.1:c.149C>G, XM_047439736.1:c.149C>G, XM_047439735.1:c.149C>G, XR_007067048.1:n.171C>G, NP_001236.4:p.Pro50Arg, NP_942142.3:p.Pro50Arg, NP_942143.3:p.Pro50Arg, NP_001171019.1:p.Pro50Arg, NP_001171020.1:p.Pro50Arg, XP_011525835.1:p.Pro50Arg, XP_011525837.1:p.Pro50Arg, XP_011525840.1:p.Pro50Arg, XP_011525841.1:p.Pro50Arg, XP_016883000.1:p.Pro50Arg, XP_047295690.1:p.Pro50Arg, XP_047295692.1:p.Pro50Arg, XP_047295691.1:p.Pro50Arg

                                      19.

                                      rs1440664913 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        19:51531248 (GRCh38)
                                        19:52034502 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:51531247:C:A
                                        Gene:
                                        SIGLEC6 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.51531248C>A, NC_000019.9:g.52034502C>A, NG_051195.1:g.5612G>T, NM_001245.7:c.339G>T, NM_001245.6:c.339G>T, NM_001245.5:c.339G>T, NM_198845.6:c.339G>T, NM_198845.5:c.339G>T, NM_198845.4:c.339G>T, NM_198846.6:c.339G>T, NM_198846.5:c.339G>T, NM_198846.4:c.339G>T, NM_001177548.3:c.339G>T, NM_001177548.2:c.339G>T, NM_001177548.1:c.339G>T, NM_001177547.3:c.231G>T, NM_001177547.2:c.231G>T, NM_001177547.1:c.231G>T, NM_001177549.3:c.339G>T, NM_001177549.2:c.339G>T, NM_001177549.1:c.339G>T, XM_011527533.4:c.339G>T, XM_011527533.3:c.339G>T, XM_011527533.2:c.339G>T, XM_011527533.1:c.339G>T, XM_011527535.4:c.339G>T, XM_011527535.3:c.339G>T, XM_011527535.2:c.339G>T, XM_011527535.1:c.339G>T, XM_011527536.4:c.231G>T, XM_011527536.3:c.231G>T, XM_011527536.2:c.231G>T, XM_011527536.1:c.231G>T, XM_011527538.4:c.339G>T, XM_011527538.3:c.339G>T, XM_011527538.2:c.339G>T, XM_011527538.1:c.339G>T, XM_011527539.4:c.339G>T, XM_011527539.3:c.339G>T, XM_011527539.2:c.339G>T, XM_011527539.1:c.339G>T, XM_011527537.3:c.231G>T, XM_011527537.2:c.231G>T, XM_011527537.1:c.231G>T, XM_017027511.3:c.339G>T, XM_017027511.2:c.339G>T, XM_017027511.1:c.339G>T, XM_047439734.1:c.339G>T, XM_047439736.1:c.339G>T, XM_047439735.1:c.339G>T, XR_007067048.1:n.361G>T, NP_001236.4:p.Arg113Ser, NP_942142.3:p.Arg113Ser, NP_942143.3:p.Arg113Ser, NP_001171019.1:p.Arg113Ser, NP_001171018.1:p.Arg77Ser, NP_001171020.1:p.Arg113Ser, XP_011525835.1:p.Arg113Ser, XP_011525837.1:p.Arg113Ser, XP_011525838.1:p.Arg77Ser, XP_011525840.1:p.Arg113Ser, XP_011525841.1:p.Arg113Ser, XP_011525839.1:p.Arg77Ser, XP_016883000.1:p.Arg113Ser, XP_047295690.1:p.Arg113Ser, XP_047295692.1:p.Arg113Ser, XP_047295691.1:p.Arg113Ser

                                        20.

                                        rs1440635607 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:51520230 (GRCh38)
                                          19:52023484 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:51520229:C:T
                                          Gene:
                                          SIGLEC6 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000043/1 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.51520230C>T, NC_000019.9:g.52023484C>T, NG_051195.1:g.16630G>A, NM_001245.7:c.1214G>A, NM_001245.6:c.1214G>A, NM_001245.5:c.1214G>A, NM_198845.6:c.1166G>A, NM_198845.5:c.1166G>A, NM_198845.4:c.1166G>A, NM_198846.6:c.1038G>A, NM_198846.5:c.1038G>A, NM_198846.4:c.1038G>A, NM_001177548.3:c.1165G>A, NM_001177548.2:c.1165G>A, NM_001177548.1:c.1165G>A, NM_001177547.3:c.1058G>A, NM_001177547.2:c.1058G>A, NM_001177547.1:c.1058G>A, NM_001177549.3:c.1005G>A, NM_001177549.2:c.1005G>A, NM_001177549.1:c.1005G>A, XM_011527533.4:c.1247G>A, XM_011527533.3:c.1247G>A, XM_011527533.2:c.1247G>A, XM_011527533.1:c.1247G>A, XM_011527535.4:c.1214G>A, XM_011527535.3:c.1214G>A, XM_011527535.2:c.1214G>A, XM_011527535.1:c.1214G>A, XM_011527536.4:c.1139G>A, XM_011527536.3:c.1139G>A, XM_011527536.2:c.1139G>A, XM_011527536.1:c.1139G>A, XM_011527538.4:c.1071G>A, XM_011527538.3:c.1071G>A, XM_011527538.2:c.1071G>A, XM_011527538.1:c.1071G>A, XM_011527539.4:c.732G>A, XM_011527539.3:c.732G>A, XM_011527539.2:c.732G>A, XM_011527539.1:c.732G>A, XM_011527537.3:c.1106G>A, XM_011527537.2:c.1106G>A, XM_011527537.1:c.1106G>A, XM_047439734.1:c.1181G>A, XM_047439736.1:c.990G>A, NP_001236.4:p.Gly405Asp, NP_942142.3:p.Gly389Asp, NP_001171019.1:p.Ala389Thr, NP_001171018.1:p.Gly353Asp, XP_011525835.1:p.Gly416Asp, XP_011525837.1:p.Gly405Asp, XP_011525838.1:p.Gly380Asp, XP_011525839.1:p.Gly369Asp, XP_047295690.1:p.Gly394Asp

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