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Items: 1 to 20 of 571

1.

rs1489241956 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:1937380 (GRCh38)
    20:1918026 (GRCh37)
    Canonical SPDI:
    NC_000020.11:1937379:C:T
    Gene:
    SIRPA (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000020.11:g.1937380C>T, NC_000020.10:g.1918026C>T, XM_005260670.4:c.1339C>T, XM_005260670.3:c.1339C>T, XM_005260670.2:c.1339C>T, XM_005260670.1:c.1339C>T, XM_011529173.3:c.1339C>T, XM_011529173.2:c.1339C>T, XM_011529173.1:c.1339C>T, NM_080792.3:c.1327C>T, NM_080792.2:c.1327C>T, XM_024451836.2:c.1339C>T, XM_024451836.1:c.1339C>T, NM_001040023.2:c.1327C>T, NM_001040023.1:c.1327C>T, XM_047439915.1:c.1339C>T, XM_047439916.1:c.1327C>T, XM_047439917.1:c.688C>T, XM_047439919.1:c.676C>T, NM_001330728.1:c.1339C>T, NM_001040022.1:c.1327C>T, XM_047439918.1:c.688C>T, XM_047439920.1:c.676C>T, NM_004648.1:c.1324C>T, XP_005260727.1:p.Gln447Ter, XP_011527475.1:p.Gln447Ter, NP_542970.1:p.Gln443Ter, XP_024307604.1:p.Gln447Ter, NP_001035112.1:p.Gln443Ter, XP_047295871.1:p.Gln447Ter, XP_047295872.1:p.Gln443Ter, XP_047295873.1:p.Gln230Ter, XP_047295875.1:p.Gln226Ter, NP_001317657.1:p.Gln447Ter, NP_001035111.1:p.Gln443Ter, XP_047295874.1:p.Gln230Ter, XP_047295876.1:p.Gln226Ter

    2.

    rs1487072320 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      20:1924857 (GRCh38)
      20:1905503 (GRCh37)
      Canonical SPDI:
      NC_000020.11:1924856:T:C
      Gene:
      SIRPA (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.1924857T>C, NC_000020.10:g.1905503T>C, XM_005260670.4:c.1181T>C, XM_005260670.3:c.1181T>C, XM_005260670.2:c.1181T>C, XM_005260670.1:c.1181T>C, XM_011529173.3:c.1181T>C, XM_011529173.2:c.1181T>C, XM_011529173.1:c.1181T>C, NM_080792.3:c.1181T>C, NM_080792.2:c.1181T>C, XM_024451836.2:c.1181T>C, XM_024451836.1:c.1181T>C, NM_001040023.2:c.1181T>C, NM_001040023.1:c.1181T>C, XM_047439915.1:c.1181T>C, XM_047439916.1:c.1181T>C, XM_047439917.1:c.530T>C, XM_047439919.1:c.530T>C, NM_001330728.1:c.1181T>C, NM_001040022.1:c.1181T>C, XM_047439918.1:c.530T>C, XM_047439920.1:c.530T>C, NM_004648.1:c.1178T>C, XP_005260727.1:p.Val394Ala, XP_011527475.1:p.Val394Ala, NP_542970.1:p.Val394Ala, XP_024307604.1:p.Val394Ala, NP_001035112.1:p.Val394Ala, XP_047295871.1:p.Val394Ala, XP_047295872.1:p.Val394Ala, XP_047295873.1:p.Val177Ala, XP_047295875.1:p.Val177Ala, NP_001317657.1:p.Val394Ala, NP_001035111.1:p.Val394Ala, XP_047295874.1:p.Val177Ala, XP_047295876.1:p.Val177Ala

      3.

      rs1486520423 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:1895496 (GRCh38)
        20:1876142 (GRCh37)
        Canonical SPDI:
        NC_000020.11:1895495:C:T
        Gene:
        SIRPA (Varview), LOC107984088 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        T=0.000468/3 (1000Genomes)
        HGVS:

        4.

        rs1486310769 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          20:1934740 (GRCh38)
          20:1915386 (GRCh37)
          Canonical SPDI:
          NC_000020.11:1934739:A:G
          Gene:
          SIRPA (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          HGVS:
          NC_000020.11:g.1934740A>G, NC_000020.10:g.1915386A>G, XM_005260670.4:c.1252A>G, XM_005260670.3:c.1252A>G, XM_005260670.2:c.1252A>G, XM_005260670.1:c.1252A>G, XM_011529173.3:c.1252A>G, XM_011529173.2:c.1252A>G, XM_011529173.1:c.1252A>G, NM_080792.3:c.1252A>G, NM_080792.2:c.1252A>G, XM_024451836.2:c.1252A>G, XM_024451836.1:c.1252A>G, NM_001040023.2:c.1252A>G, NM_001040023.1:c.1252A>G, XM_047439915.1:c.1252A>G, XM_047439916.1:c.1252A>G, XM_047439917.1:c.601A>G, XM_047439919.1:c.601A>G, NM_001330728.1:c.1252A>G, NM_001040022.1:c.1252A>G, XM_047439918.1:c.601A>G, XM_047439920.1:c.601A>G, NM_004648.1:c.1249A>G, XP_005260727.1:p.Arg418Gly, XP_011527475.1:p.Arg418Gly, NP_542970.1:p.Arg418Gly, XP_024307604.1:p.Arg418Gly, NP_001035112.1:p.Arg418Gly, XP_047295871.1:p.Arg418Gly, XP_047295872.1:p.Arg418Gly, XP_047295873.1:p.Arg201Gly, XP_047295875.1:p.Arg201Gly, NP_001317657.1:p.Arg418Gly, NP_001035111.1:p.Arg418Gly, XP_047295874.1:p.Arg201Gly, XP_047295876.1:p.Arg201Gly

          5.

          rs1483558092 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            20:1915279 (GRCh38)
            20:1895926 (GRCh37)
            Canonical SPDI:
            NC_000020.11:1915279:CCCCC:CCCCCC
            Gene:
            SIRPA (Varview)
            Functional Consequence:
            coding_sequence_variant,frameshift_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCCCC=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000020.11:g.1915284dup, NC_000020.10:g.1895930dup, XM_005260670.4:c.265dup, XM_005260670.3:c.265dup, XM_005260670.2:c.265dup, XM_005260670.1:c.265dup, XM_011529173.3:c.265dup, XM_011529173.2:c.265dup, XM_011529173.1:c.265dup, NM_080792.3:c.265dup, NM_080792.2:c.265dup, XM_024451836.2:c.265dup, XM_024451836.1:c.265dup, NM_001040023.2:c.265dup, NM_001040023.1:c.265dup, XM_047439915.1:c.265dup, XM_047439916.1:c.265dup, XM_047439917.1:c.265dup, XM_047439919.1:c.265dup, NM_001330728.1:c.265dup, NM_001040022.1:c.265dup, XM_047439918.1:c.265dup, XM_047439920.1:c.265dup, NM_004648.1:c.265dup, XP_005260727.1:p.Arg89fs, XP_011527475.1:p.Arg89fs, NP_542970.1:p.Arg89fs, XP_024307604.1:p.Arg89fs, NP_001035112.1:p.Arg89fs, XP_047295871.1:p.Arg89fs, XP_047295872.1:p.Arg89fs, XP_047295873.1:p.Arg89fs, XP_047295875.1:p.Arg89fs, NP_001317657.1:p.Arg89fs, NP_001035111.1:p.Arg89fs, XP_047295874.1:p.Arg89fs, XP_047295876.1:p.Arg89fs

            6.

            rs1479696576 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:1915445 (GRCh38)
              20:1896091 (GRCh37)
              Canonical SPDI:
              NC_000020.11:1915444:G:A
              Gene:
              SIRPA (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1475834892 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                20:1922357 (GRCh38)
                20:1903003 (GRCh37)
                Canonical SPDI:
                NC_000020.11:1922356:A:C,NC_000020.11:1922356:A:G
                Gene:
                SIRPA (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.1922357A>C, NC_000020.11:g.1922357A>G, NC_000020.10:g.1903003A>C, NC_000020.10:g.1903003A>G, XM_005260670.4:c.799A>C, XM_005260670.4:c.799A>G, XM_005260670.3:c.799A>C, XM_005260670.3:c.799A>G, XM_005260670.2:c.799A>C, XM_005260670.2:c.799A>G, XM_005260670.1:c.799A>C, XM_005260670.1:c.799A>G, XM_011529173.3:c.799A>C, XM_011529173.3:c.799A>G, XM_011529173.2:c.799A>C, XM_011529173.2:c.799A>G, XM_011529173.1:c.799A>C, XM_011529173.1:c.799A>G, NM_080792.3:c.799A>C, NM_080792.3:c.799A>G, NM_080792.2:c.799A>C, NM_080792.2:c.799A>G, XM_024451836.2:c.799A>C, XM_024451836.2:c.799A>G, XM_024451836.1:c.799A>C, XM_024451836.1:c.799A>G, NM_001040023.2:c.799A>C, NM_001040023.2:c.799A>G, NM_001040023.1:c.799A>C, NM_001040023.1:c.799A>G, XM_047439915.1:c.799A>C, XM_047439915.1:c.799A>G, XM_047439916.1:c.799A>C, XM_047439916.1:c.799A>G, NM_001330728.1:c.799A>C, NM_001330728.1:c.799A>G, NM_001040022.1:c.799A>C, NM_001040022.1:c.799A>G, NM_004648.1:c.796A>C, NM_004648.1:c.796A>G, XP_005260727.1:p.Asn267His, XP_005260727.1:p.Asn267Asp, XP_011527475.1:p.Asn267His, XP_011527475.1:p.Asn267Asp, NP_542970.1:p.Asn267His, NP_542970.1:p.Asn267Asp, XP_024307604.1:p.Asn267His, XP_024307604.1:p.Asn267Asp, NP_001035112.1:p.Asn267His, NP_001035112.1:p.Asn267Asp, XP_047295871.1:p.Asn267His, XP_047295871.1:p.Asn267Asp, XP_047295872.1:p.Asn267His, XP_047295872.1:p.Asn267Asp, NP_001317657.1:p.Asn267His, NP_001317657.1:p.Asn267Asp, NP_001035111.1:p.Asn267His, NP_001035111.1:p.Asn267Asp

                8.

                rs1472583308 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  20:1937363 (GRCh38)
                  20:1918009 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:1937362:G:A
                  Gene:
                  SIRPA (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  NC_000020.11:g.1937363G>A, NC_000020.10:g.1918009G>A, XM_005260670.4:c.1322G>A, XM_005260670.3:c.1322G>A, XM_005260670.2:c.1322G>A, XM_005260670.1:c.1322G>A, XM_011529173.3:c.1322G>A, XM_011529173.2:c.1322G>A, XM_011529173.1:c.1322G>A, NM_080792.3:c.1310G>A, NM_080792.2:c.1310G>A, XM_024451836.2:c.1322G>A, XM_024451836.1:c.1322G>A, NM_001040023.2:c.1310G>A, NM_001040023.1:c.1310G>A, XM_047439915.1:c.1322G>A, XM_047439916.1:c.1310G>A, XM_047439917.1:c.671G>A, XM_047439919.1:c.659G>A, NM_001330728.1:c.1322G>A, NM_001040022.1:c.1310G>A, XM_047439918.1:c.671G>A, XM_047439920.1:c.659G>A, NM_004648.1:c.1307G>A, XP_005260727.1:p.Gly441Glu, XP_011527475.1:p.Gly441Glu, NP_542970.1:p.Gly437Glu, XP_024307604.1:p.Gly441Glu, NP_001035112.1:p.Gly437Glu, XP_047295871.1:p.Gly441Glu, XP_047295872.1:p.Gly437Glu, XP_047295873.1:p.Gly224Glu, XP_047295875.1:p.Gly220Glu, NP_001317657.1:p.Gly441Glu, NP_001035111.1:p.Gly437Glu, XP_047295874.1:p.Gly224Glu, XP_047295876.1:p.Gly220Glu

                  9.

                  rs1472334782 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    20:1937429 (GRCh38)
                    20:1918075 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:1937428:G:C
                    Gene:
                    SIRPA (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000020.11:g.1937429G>C, NC_000020.10:g.1918075G>C, XM_005260670.4:c.1388G>C, XM_005260670.3:c.1388G>C, XM_005260670.2:c.1388G>C, XM_005260670.1:c.1388G>C, XM_011529173.3:c.1388G>C, XM_011529173.2:c.1388G>C, XM_011529173.1:c.1388G>C, NM_080792.3:c.1376G>C, NM_080792.2:c.1376G>C, XM_024451836.2:c.1388G>C, XM_024451836.1:c.1388G>C, NM_001040023.2:c.1376G>C, NM_001040023.1:c.1376G>C, XM_047439915.1:c.1388G>C, XM_047439916.1:c.1376G>C, XM_047439917.1:c.737G>C, XM_047439919.1:c.725G>C, NM_001330728.1:c.1388G>C, NM_001040022.1:c.1376G>C, XM_047439918.1:c.737G>C, XM_047439920.1:c.725G>C, NM_004648.1:c.1373G>C, XP_005260727.1:p.Ser463Thr, XP_011527475.1:p.Ser463Thr, NP_542970.1:p.Ser459Thr, XP_024307604.1:p.Ser463Thr, NP_001035112.1:p.Ser459Thr, XP_047295871.1:p.Ser463Thr, XP_047295872.1:p.Ser459Thr, XP_047295873.1:p.Ser246Thr, XP_047295875.1:p.Ser242Thr, NP_001317657.1:p.Ser463Thr, NP_001035111.1:p.Ser459Thr, XP_047295874.1:p.Ser246Thr, XP_047295876.1:p.Ser242Thr

                    10.

                    rs1471635352 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      20:1915327 (GRCh38)
                      20:1895973 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:1915326:A:T
                      Gene:
                      SIRPA (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000020.11:g.1915327A>T, NC_000020.10:g.1895973A>T, XM_005260670.4:c.308A>T, XM_005260670.3:c.308A>T, XM_005260670.2:c.308A>T, XM_005260670.1:c.308A>T, XM_011529173.3:c.308A>T, XM_011529173.2:c.308A>T, XM_011529173.1:c.308A>T, NM_080792.3:c.308A>T, NM_080792.2:c.308A>T, XM_024451836.2:c.308A>T, XM_024451836.1:c.308A>T, NM_001040023.2:c.308A>T, NM_001040023.1:c.308A>T, XM_047439915.1:c.308A>T, XM_047439916.1:c.308A>T, XM_047439917.1:c.308A>T, XM_047439919.1:c.308A>T, NM_001330728.1:c.308A>T, NM_001040022.1:c.308A>T, XM_047439918.1:c.308A>T, XM_047439920.1:c.308A>T, NM_004648.1:c.308A>T, XP_005260727.1:p.Asp103Val, XP_011527475.1:p.Asp103Val, NP_542970.1:p.Asp103Val, XP_024307604.1:p.Asp103Val, NP_001035112.1:p.Asp103Val, XP_047295871.1:p.Asp103Val, XP_047295872.1:p.Asp103Val, XP_047295873.1:p.Asp103Val, XP_047295875.1:p.Asp103Val, NP_001317657.1:p.Asp103Val, NP_001035111.1:p.Asp103Val, XP_047295874.1:p.Asp103Val, XP_047295876.1:p.Asp103Val

                      11.

                      rs1470816541 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        20:1921546 (GRCh38)
                        20:1902192 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:1921545:C:G
                        Gene:
                        SIRPA (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000008/2 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1466608520 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          20:1937502 (GRCh38)
                          20:1918148 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:1937501:G:C
                          Gene:
                          SIRPA (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000020.11:g.1937502G>C, NC_000020.10:g.1918148G>C, XM_005260670.4:c.1461G>C, XM_005260670.3:c.1461G>C, XM_005260670.2:c.1461G>C, XM_005260670.1:c.1461G>C, XM_011529173.3:c.1461G>C, XM_011529173.2:c.1461G>C, XM_011529173.1:c.1461G>C, NM_080792.3:c.1449G>C, NM_080792.2:c.1449G>C, XM_024451836.2:c.1461G>C, XM_024451836.1:c.1461G>C, NM_001040023.2:c.1449G>C, NM_001040023.1:c.1449G>C, XM_047439915.1:c.1461G>C, XM_047439916.1:c.1449G>C, XM_047439917.1:c.810G>C, XM_047439919.1:c.798G>C, NM_001330728.1:c.1461G>C, NM_001040022.1:c.1449G>C, XM_047439918.1:c.810G>C, XM_047439920.1:c.798G>C, NM_004648.1:c.1446G>C, XP_005260727.1:p.Lys487Asn, XP_011527475.1:p.Lys487Asn, NP_542970.1:p.Lys483Asn, XP_024307604.1:p.Lys487Asn, NP_001035112.1:p.Lys483Asn, XP_047295871.1:p.Lys487Asn, XP_047295872.1:p.Lys483Asn, XP_047295873.1:p.Lys270Asn, XP_047295875.1:p.Lys266Asn, NP_001317657.1:p.Lys487Asn, NP_001035111.1:p.Lys483Asn, XP_047295874.1:p.Lys270Asn, XP_047295876.1:p.Lys266Asn

                          13.

                          rs1465413794 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            20:1922370 (GRCh38)
                            20:1903016 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:1922369:T:C
                            Gene:
                            SIRPA (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1464969245 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              20:1937450 (GRCh38)
                              20:1918096 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:1937449:A:C,NC_000020.11:1937449:A:G
                              Gene:
                              SIRPA (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000020.11:g.1937450A>C, NC_000020.11:g.1937450A>G, NC_000020.10:g.1918096A>C, NC_000020.10:g.1918096A>G, XM_005260670.4:c.1409A>C, XM_005260670.4:c.1409A>G, XM_005260670.3:c.1409A>C, XM_005260670.3:c.1409A>G, XM_005260670.2:c.1409A>C, XM_005260670.2:c.1409A>G, XM_005260670.1:c.1409A>C, XM_005260670.1:c.1409A>G, XM_011529173.3:c.1409A>C, XM_011529173.3:c.1409A>G, XM_011529173.2:c.1409A>C, XM_011529173.2:c.1409A>G, XM_011529173.1:c.1409A>C, XM_011529173.1:c.1409A>G, NM_080792.3:c.1397A>C, NM_080792.3:c.1397A>G, NM_080792.2:c.1397A>C, NM_080792.2:c.1397A>G, XM_024451836.2:c.1409A>C, XM_024451836.2:c.1409A>G, XM_024451836.1:c.1409A>C, XM_024451836.1:c.1409A>G, NM_001040023.2:c.1397A>C, NM_001040023.2:c.1397A>G, NM_001040023.1:c.1397A>C, NM_001040023.1:c.1397A>G, XM_047439915.1:c.1409A>C, XM_047439915.1:c.1409A>G, XM_047439916.1:c.1397A>C, XM_047439916.1:c.1397A>G, XM_047439917.1:c.758A>C, XM_047439917.1:c.758A>G, XM_047439919.1:c.746A>C, XM_047439919.1:c.746A>G, NM_001330728.1:c.1409A>C, NM_001330728.1:c.1409A>G, NM_001040022.1:c.1397A>C, NM_001040022.1:c.1397A>G, XM_047439918.1:c.758A>C, XM_047439918.1:c.758A>G, XM_047439920.1:c.746A>C, XM_047439920.1:c.746A>G, NM_004648.1:c.1394A>C, NM_004648.1:c.1394A>G, XP_005260727.1:p.Asp470Ala, XP_005260727.1:p.Asp470Gly, XP_011527475.1:p.Asp470Ala, XP_011527475.1:p.Asp470Gly, NP_542970.1:p.Asp466Ala, NP_542970.1:p.Asp466Gly, XP_024307604.1:p.Asp470Ala, XP_024307604.1:p.Asp470Gly, NP_001035112.1:p.Asp466Ala, NP_001035112.1:p.Asp466Gly, XP_047295871.1:p.Asp470Ala, XP_047295871.1:p.Asp470Gly, XP_047295872.1:p.Asp466Ala, XP_047295872.1:p.Asp466Gly, XP_047295873.1:p.Asp253Ala, XP_047295873.1:p.Asp253Gly, XP_047295875.1:p.Asp249Ala, XP_047295875.1:p.Asp249Gly, NP_001317657.1:p.Asp470Ala, NP_001317657.1:p.Asp470Gly, NP_001035111.1:p.Asp466Ala, NP_001035111.1:p.Asp466Gly, XP_047295874.1:p.Asp253Ala, XP_047295874.1:p.Asp253Gly, XP_047295876.1:p.Asp249Ala, XP_047295876.1:p.Asp249Gly

                              15.

                              rs1458812035 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                20:1895481 (GRCh38)
                                20:1876127 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:1895480:G:C,NC_000020.11:1895480:G:T
                                Gene:
                                SIRPA (Varview), LOC107984088 (Varview)
                                Functional Consequence:
                                missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000014/2 (GnomAD)
                                C=0.000018/1 (GnomAD_exomes)
                                HGVS:
                                NC_000020.11:g.1895481G>C, NC_000020.11:g.1895481G>T, NC_000020.10:g.1876127G>C, NC_000020.10:g.1876127G>T, XM_005260670.4:c.34G>C, XM_005260670.4:c.34G>T, XM_005260670.3:c.34G>C, XM_005260670.3:c.34G>T, XM_005260670.2:c.34G>C, XM_005260670.2:c.34G>T, XM_005260670.1:c.34G>C, XM_005260670.1:c.34G>T, NM_080792.3:c.34G>C, NM_080792.3:c.34G>T, NM_080792.2:c.34G>C, NM_080792.2:c.34G>T, XM_024451836.2:c.34G>C, XM_024451836.2:c.34G>T, XM_024451836.1:c.34G>C, XM_024451836.1:c.34G>T, NM_001040023.2:c.34G>C, NM_001040023.2:c.34G>T, NM_001040023.1:c.34G>C, NM_001040023.1:c.34G>T, XM_047439915.1:c.-170G>C, XM_047439915.1:c.-170G>T, XM_047439916.1:c.34G>C, XM_047439916.1:c.34G>T, XM_047439917.1:c.34G>C, XM_047439917.1:c.34G>T, XM_047439919.1:c.34G>C, XM_047439919.1:c.34G>T, NM_001330728.1:c.34G>C, NM_001330728.1:c.34G>T, NM_001040022.1:c.34G>C, NM_001040022.1:c.34G>T, XM_047439918.1:c.34G>C, XM_047439918.1:c.34G>T, XM_047439920.1:c.34G>C, XM_047439920.1:c.34G>T, NM_004648.1:c.34G>C, NM_004648.1:c.34G>T, XP_005260727.1:p.Gly12Arg, XP_005260727.1:p.Gly12Trp, NP_542970.1:p.Gly12Arg, NP_542970.1:p.Gly12Trp, XP_024307604.1:p.Gly12Arg, XP_024307604.1:p.Gly12Trp, NP_001035112.1:p.Gly12Arg, NP_001035112.1:p.Gly12Trp, XP_047295872.1:p.Gly12Arg, XP_047295872.1:p.Gly12Trp, XP_047295873.1:p.Gly12Arg, XP_047295873.1:p.Gly12Trp, XP_047295875.1:p.Gly12Arg, XP_047295875.1:p.Gly12Trp, NP_001317657.1:p.Gly12Arg, NP_001317657.1:p.Gly12Trp, NP_001035111.1:p.Gly12Arg, NP_001035111.1:p.Gly12Trp, XP_047295874.1:p.Gly12Arg, XP_047295874.1:p.Gly12Trp, XP_047295876.1:p.Gly12Arg, XP_047295876.1:p.Gly12Trp

                                16.

                                rs1456779931 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:1937437 (GRCh38)
                                  20:1918083 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:1937436:C:T
                                  Gene:
                                  SIRPA (Varview)
                                  Functional Consequence:
                                  missense_variant,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_000020.11:g.1937437C>T, NC_000020.10:g.1918083C>T, XM_005260670.4:c.1396C>T, XM_005260670.3:c.1396C>T, XM_005260670.2:c.1396C>T, XM_005260670.1:c.1396C>T, XM_011529173.3:c.1396C>T, XM_011529173.2:c.1396C>T, XM_011529173.1:c.1396C>T, NM_080792.3:c.1384C>T, NM_080792.2:c.1384C>T, XM_024451836.2:c.1396C>T, XM_024451836.1:c.1396C>T, NM_001040023.2:c.1384C>T, NM_001040023.1:c.1384C>T, XM_047439915.1:c.1396C>T, XM_047439916.1:c.1384C>T, XM_047439917.1:c.745C>T, XM_047439919.1:c.733C>T, NM_001330728.1:c.1396C>T, NM_001040022.1:c.1384C>T, XM_047439918.1:c.745C>T, XM_047439920.1:c.733C>T, NM_004648.1:c.1381C>T, XP_005260727.1:p.Pro466Ser, XP_011527475.1:p.Pro466Ser, NP_542970.1:p.Pro462Ser, XP_024307604.1:p.Pro466Ser, NP_001035112.1:p.Pro462Ser, XP_047295871.1:p.Pro466Ser, XP_047295872.1:p.Pro462Ser, XP_047295873.1:p.Pro249Ser, XP_047295875.1:p.Pro245Ser, NP_001317657.1:p.Pro466Ser, NP_001035111.1:p.Pro462Ser, XP_047295874.1:p.Pro249Ser, XP_047295876.1:p.Pro245Ser

                                  17.

                                  rs1450343462 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    20:1937327 (GRCh38)
                                    20:1917973 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:1937326:A:G
                                    Gene:
                                    SIRPA (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.1937327A>G, NC_000020.10:g.1917973A>G, XM_005260670.4:c.1286A>G, XM_005260670.3:c.1286A>G, XM_005260670.2:c.1286A>G, XM_005260670.1:c.1286A>G, XM_011529173.3:c.1286A>G, XM_011529173.2:c.1286A>G, XM_011529173.1:c.1286A>G, NM_080792.3:c.1274A>G, NM_080792.2:c.1274A>G, XM_024451836.2:c.1286A>G, XM_024451836.1:c.1286A>G, NM_001040023.2:c.1274A>G, NM_001040023.1:c.1274A>G, XM_047439915.1:c.1286A>G, XM_047439916.1:c.1274A>G, XM_047439917.1:c.635A>G, XM_047439919.1:c.623A>G, NM_001330728.1:c.1286A>G, NM_001040022.1:c.1274A>G, XM_047439918.1:c.635A>G, XM_047439920.1:c.623A>G, NM_004648.1:c.1271A>G, XP_005260727.1:p.Asn429Ser, XP_011527475.1:p.Asn429Ser, NP_542970.1:p.Asn425Ser, XP_024307604.1:p.Asn429Ser, NP_001035112.1:p.Asn425Ser, XP_047295871.1:p.Asn429Ser, XP_047295872.1:p.Asn425Ser, XP_047295873.1:p.Asn212Ser, XP_047295875.1:p.Asn208Ser, NP_001317657.1:p.Asn429Ser, NP_001035111.1:p.Asn425Ser, XP_047295874.1:p.Asn212Ser, XP_047295876.1:p.Asn208Ser

                                    18.

                                    rs1449083414 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:1937377 (GRCh38)
                                      20:1918023 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:1937376:C:T
                                      Gene:
                                      SIRPA (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.1937377C>T, NC_000020.10:g.1918023C>T, XM_005260670.4:c.1336C>T, XM_005260670.3:c.1336C>T, XM_005260670.2:c.1336C>T, XM_005260670.1:c.1336C>T, XM_011529173.3:c.1336C>T, XM_011529173.2:c.1336C>T, XM_011529173.1:c.1336C>T, NM_080792.3:c.1324C>T, NM_080792.2:c.1324C>T, XM_024451836.2:c.1336C>T, XM_024451836.1:c.1336C>T, NM_001040023.2:c.1324C>T, NM_001040023.1:c.1324C>T, XM_047439915.1:c.1336C>T, XM_047439916.1:c.1324C>T, XM_047439917.1:c.685C>T, XM_047439919.1:c.673C>T, NM_001330728.1:c.1336C>T, NM_001040022.1:c.1324C>T, XM_047439918.1:c.685C>T, XM_047439920.1:c.673C>T, NM_004648.1:c.1321C>T, XP_005260727.1:p.Pro446Ser, XP_011527475.1:p.Pro446Ser, NP_542970.1:p.Pro442Ser, XP_024307604.1:p.Pro446Ser, NP_001035112.1:p.Pro442Ser, XP_047295871.1:p.Pro446Ser, XP_047295872.1:p.Pro442Ser, XP_047295873.1:p.Pro229Ser, XP_047295875.1:p.Pro225Ser, NP_001317657.1:p.Pro446Ser, NP_001035111.1:p.Pro442Ser, XP_047295874.1:p.Pro229Ser, XP_047295876.1:p.Pro225Ser

                                      19.

                                      rs1446582576 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        20:1915256 (GRCh38)
                                        20:1895902 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:1915255:C:G
                                        Gene:
                                        SIRPA (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000020.11:g.1915256C>G, NC_000020.10:g.1895902C>G, XM_005260670.4:c.237C>G, XM_005260670.3:c.237C>G, XM_005260670.2:c.237C>G, XM_005260670.1:c.237C>G, XM_011529173.3:c.237C>G, XM_011529173.2:c.237C>G, XM_011529173.1:c.237C>G, NM_080792.3:c.237C>G, NM_080792.2:c.237C>G, XM_024451836.2:c.237C>G, XM_024451836.1:c.237C>G, NM_001040023.2:c.237C>G, NM_001040023.1:c.237C>G, XM_047439915.1:c.237C>G, XM_047439916.1:c.237C>G, XM_047439917.1:c.237C>G, XM_047439919.1:c.237C>G, NM_001330728.1:c.237C>G, NM_001040022.1:c.237C>G, XM_047439918.1:c.237C>G, XM_047439920.1:c.237C>G, NM_004648.1:c.237C>G, XP_005260727.1:p.Ile79Met, XP_011527475.1:p.Ile79Met, NP_542970.1:p.Ile79Met, XP_024307604.1:p.Ile79Met, NP_001035112.1:p.Ile79Met, XP_047295871.1:p.Ile79Met, XP_047295872.1:p.Ile79Met, XP_047295873.1:p.Ile79Met, XP_047295875.1:p.Ile79Met, NP_001317657.1:p.Ile79Met, NP_001035111.1:p.Ile79Met, XP_047295874.1:p.Ile79Met, XP_047295876.1:p.Ile79Met

                                        20.

                                        rs1445393851 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          20:1927893 (GRCh38)
                                          20:1908539 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:1927892:C:G
                                          Gene:
                                          SIRPA (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000020.11:g.1927893C>G, NC_000020.10:g.1908539C>G, XM_005260670.4:c.1220C>G, XM_005260670.3:c.1220C>G, XM_005260670.2:c.1220C>G, XM_005260670.1:c.1220C>G, XM_011529173.3:c.1220C>G, XM_011529173.2:c.1220C>G, XM_011529173.1:c.1220C>G, NM_080792.3:c.1220C>G, NM_080792.2:c.1220C>G, XM_024451836.2:c.1220C>G, XM_024451836.1:c.1220C>G, NM_001040023.2:c.1220C>G, NM_001040023.1:c.1220C>G, XM_047439915.1:c.1220C>G, XM_047439916.1:c.1220C>G, XM_047439917.1:c.569C>G, XM_047439919.1:c.569C>G, NM_001330728.1:c.1220C>G, NM_001040022.1:c.1220C>G, XM_047439918.1:c.569C>G, XM_047439920.1:c.569C>G, NM_004648.1:c.1217C>G, XP_005260727.1:p.Ser407Cys, XP_011527475.1:p.Ser407Cys, NP_542970.1:p.Ser407Cys, XP_024307604.1:p.Ser407Cys, NP_001035112.1:p.Ser407Cys, XP_047295871.1:p.Ser407Cys, XP_047295872.1:p.Ser407Cys, XP_047295873.1:p.Ser190Cys, XP_047295875.1:p.Ser190Cys, NP_001317657.1:p.Ser407Cys, NP_001035111.1:p.Ser407Cys, XP_047295874.1:p.Ser190Cys, XP_047295876.1:p.Ser190Cys

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