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Items: 1 to 20 of 647

1.

rs1489565020 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    6:18187818 (GRCh38)
    6:18188049 (GRCh37)
    Canonical SPDI:
    NC_000006.12:18187817:G:T
    Gene:
    KDM1B (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000142/2 (ALFA)
    T=0.000007/1 (GnomAD_exomes)
    T=0.000011/3 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000006.12:g.18187818G>T, NC_000006.11:g.18188049G>T, XM_017010440.3:c.627G>T, XM_017010440.2:c.627G>T, XM_017010440.1:c.627G>T, XM_017010441.3:c.627G>T, XM_017010441.2:c.627G>T, XM_017010441.1:c.627G>T, XM_005248925.3:c.600G>T, XM_005248925.2:c.600G>T, XM_005248925.1:c.600G>T, XM_017010443.3:c.627G>T, XM_017010443.2:c.627G>T, XM_017010443.1:c.627G>T, XM_017010442.3:c.537G>T, XM_017010442.2:c.537G>T, XM_017010442.1:c.537G>T, NM_001364614.2:c.600G>T, NM_001364614.1:c.600G>T, XM_017010446.2:c.627G>T, XM_017010446.1:c.627G>T, XM_047418354.1:c.627G>T, XM_047418355.1:c.600G>T, XM_047418356.1:c.600G>T, XM_047418352.1:c.510G>T, XM_047418353.1:c.510G>T, XM_047418358.1:c.510G>T, XM_047418368.1:c.600G>T, XP_016865929.1:p.Trp209Cys, XP_016865930.1:p.Trp209Cys, XP_005248982.1:p.Trp200Cys, XP_016865932.1:p.Trp209Cys, XP_016865931.1:p.Trp179Cys, NP_001351543.1:p.Trp200Cys, XP_016865935.1:p.Trp209Cys, XP_047274310.1:p.Trp209Cys, XP_047274311.1:p.Trp200Cys, XP_047274312.1:p.Trp200Cys, XP_047274308.1:p.Trp170Cys, XP_047274309.1:p.Trp170Cys, XP_047274314.1:p.Trp170Cys, XP_047274324.1:p.Trp200Cys

    2.

    rs1485925336 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:18221936 (GRCh38)
      6:18222167 (GRCh37)
      Canonical SPDI:
      NC_000006.12:18221935:G:A
      Gene:
      KDM1B (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.18221936G>A, NC_000006.11:g.18222167G>A, NM_153042.4:c.1717G>A, NM_153042.3:c.1717G>A, XM_017010440.3:c.2443G>A, XM_017010440.2:c.2443G>A, XM_017010440.1:c.2443G>A, XM_017010441.3:c.2440G>A, XM_017010441.2:c.2440G>A, XM_017010441.1:c.2440G>A, XM_005248925.3:c.2416G>A, XM_005248925.2:c.2416G>A, XM_005248925.1:c.2416G>A, XM_017010443.3:c.2443G>A, XM_017010443.2:c.2443G>A, XM_017010443.1:c.2443G>A, XM_017010442.3:c.2353G>A, XM_017010442.2:c.2353G>A, XM_017010442.1:c.2353G>A, XM_017010445.3:c.2047G>A, XM_017010445.2:c.2047G>A, XM_017010445.1:c.2047G>A, XM_011514385.3:c.2020G>A, XM_011514385.2:c.2020G>A, XM_011514385.1:c.2020G>A, XM_011514386.3:c.2017G>A, XM_011514386.2:c.2017G>A, XM_011514386.1:c.2017G>A, XM_005248928.3:c.1981G>A, XM_005248928.2:c.1981G>A, XM_005248928.1:c.1981G>A, NM_001364614.2:c.2413G>A, NM_001364614.1:c.2413G>A, XM_047418354.1:c.2440G>A, XM_047418355.1:c.2416G>A, XM_047418356.1:c.2413G>A, XM_047418352.1:c.2326G>A, XM_047418353.1:c.2323G>A, XM_047418358.1:c.2323G>A, XM_047418357.1:c.2044G>A, XM_047418359.1:c.1978G>A, XM_047418363.1:c.2020G>A, XM_047418364.1:c.2017G>A, XM_047418365.1:c.1978G>A, XM_047418360.1:c.1927G>A, XM_047418361.1:c.1891G>A, XM_047418362.1:c.1888G>A, XM_047418366.1:c.1930G>A, XM_047418367.1:c.1888G>A, NP_694587.3:p.Val573Ile, XP_016865929.1:p.Val815Ile, XP_016865930.1:p.Val814Ile, XP_005248982.1:p.Val806Ile, XP_016865932.1:p.Val815Ile, XP_016865931.1:p.Val785Ile, XP_016865934.1:p.Val683Ile, XP_011512687.1:p.Val674Ile, XP_011512688.1:p.Val673Ile, XP_005248985.1:p.Val661Ile, NP_001351543.1:p.Val805Ile, XP_047274310.1:p.Val814Ile, XP_047274311.1:p.Val806Ile, XP_047274312.1:p.Val805Ile, XP_047274308.1:p.Val776Ile, XP_047274309.1:p.Val775Ile, XP_047274314.1:p.Val775Ile, XP_047274313.1:p.Val682Ile, XP_047274315.1:p.Val660Ile, XP_047274319.1:p.Val674Ile, XP_047274320.1:p.Val673Ile, XP_047274321.1:p.Val660Ile, XP_047274316.1:p.Val643Ile, XP_047274317.1:p.Val631Ile, XP_047274318.1:p.Val630Ile, XP_047274322.1:p.Val644Ile, XP_047274323.1:p.Val630Ile

      3.

      rs1485270467 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:18161442 (GRCh38)
        6:18161673 (GRCh37)
        Canonical SPDI:
        NC_000006.12:18161441:G:A
        Gene:
        KDM1B (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.18161442G>A, NC_000006.11:g.18161673G>A, NM_153042.4:c.203G>A, NM_153042.3:c.203G>A, XM_017010440.3:c.203G>A, XM_017010440.2:c.203G>A, XM_017010440.1:c.203G>A, XM_017010441.3:c.203G>A, XM_017010441.2:c.203G>A, XM_017010441.1:c.203G>A, XM_005248925.3:c.203G>A, XM_005248925.2:c.203G>A, XM_005248925.1:c.203G>A, XM_017010443.3:c.203G>A, XM_017010443.2:c.203G>A, XM_017010443.1:c.203G>A, XM_017010442.3:c.203G>A, XM_017010442.2:c.203G>A, XM_017010442.1:c.203G>A, XM_017010445.3:c.203G>A, XM_017010445.2:c.203G>A, XM_017010445.1:c.203G>A, XM_011514385.3:c.203G>A, XM_011514385.2:c.203G>A, XM_011514385.1:c.203G>A, XM_011514386.3:c.203G>A, XM_011514386.2:c.203G>A, XM_011514386.1:c.203G>A, XM_005248928.3:c.203G>A, XM_005248928.2:c.203G>A, XM_005248928.1:c.203G>A, NM_001364614.2:c.203G>A, NM_001364614.1:c.203G>A, XM_017010446.2:c.203G>A, XM_017010446.1:c.203G>A, XM_047418354.1:c.203G>A, XM_047418355.1:c.203G>A, XM_047418356.1:c.203G>A, XM_047418352.1:c.203G>A, XM_047418353.1:c.203G>A, XM_047418358.1:c.203G>A, XM_047418357.1:c.203G>A, XM_047418359.1:c.203G>A, XM_047418363.1:c.203G>A, XM_047418364.1:c.203G>A, XM_047418365.1:c.203G>A, XM_047418360.1:c.203G>A, XM_047418361.1:c.203G>A, XM_047418362.1:c.203G>A, XM_047418366.1:c.203G>A, XM_047418367.1:c.203G>A, XM_047418368.1:c.203G>A, NP_694587.3:p.Ser68Asn, XP_016865929.1:p.Ser68Asn, XP_016865930.1:p.Ser68Asn, XP_005248982.1:p.Ser68Asn, XP_016865932.1:p.Ser68Asn, XP_016865931.1:p.Ser68Asn, XP_016865934.1:p.Ser68Asn, XP_011512687.1:p.Ser68Asn, XP_011512688.1:p.Ser68Asn, XP_005248985.1:p.Ser68Asn, NP_001351543.1:p.Ser68Asn, XP_016865935.1:p.Ser68Asn, XP_047274310.1:p.Ser68Asn, XP_047274311.1:p.Ser68Asn, XP_047274312.1:p.Ser68Asn, XP_047274308.1:p.Ser68Asn, XP_047274309.1:p.Ser68Asn, XP_047274314.1:p.Ser68Asn, XP_047274313.1:p.Ser68Asn, XP_047274315.1:p.Ser68Asn, XP_047274319.1:p.Ser68Asn, XP_047274320.1:p.Ser68Asn, XP_047274321.1:p.Ser68Asn, XP_047274316.1:p.Ser68Asn, XP_047274317.1:p.Ser68Asn, XP_047274318.1:p.Ser68Asn, XP_047274322.1:p.Ser68Asn, XP_047274323.1:p.Ser68Asn, XP_047274324.1:p.Ser68Asn

        4.

        rs1484597842 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          6:18208174 (GRCh38)
          6:18208405 (GRCh37)
          Canonical SPDI:
          NC_000006.12:18208173:A:G
          Gene:
          KDM1B (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.18208174A>G, NC_000006.11:g.18208405A>G, NM_153042.4:c.1138A>G, NM_153042.3:c.1138A>G, XM_017010440.3:c.1864A>G, XM_017010440.2:c.1864A>G, XM_017010440.1:c.1864A>G, XM_017010441.3:c.1861A>G, XM_017010441.2:c.1861A>G, XM_017010441.1:c.1861A>G, XM_005248925.3:c.1837A>G, XM_005248925.2:c.1837A>G, XM_005248925.1:c.1837A>G, XM_017010443.3:c.1864A>G, XM_017010443.2:c.1864A>G, XM_017010443.1:c.1864A>G, XM_017010442.3:c.1774A>G, XM_017010442.2:c.1774A>G, XM_017010442.1:c.1774A>G, XM_017010445.3:c.1468A>G, XM_017010445.2:c.1468A>G, XM_017010445.1:c.1468A>G, XM_011514385.3:c.1441A>G, XM_011514385.2:c.1441A>G, XM_011514385.1:c.1441A>G, XM_011514386.3:c.1438A>G, XM_011514386.2:c.1438A>G, XM_011514386.1:c.1438A>G, XM_005248928.3:c.1402A>G, XM_005248928.2:c.1402A>G, XM_005248928.1:c.1402A>G, NM_001364614.2:c.1834A>G, NM_001364614.1:c.1834A>G, XM_047418354.1:c.1861A>G, XM_047418355.1:c.1837A>G, XM_047418356.1:c.1834A>G, XM_047418352.1:c.1747A>G, XM_047418353.1:c.1744A>G, XM_047418358.1:c.1744A>G, XM_047418357.1:c.1465A>G, XM_047418359.1:c.1399A>G, XM_047418363.1:c.1441A>G, XM_047418364.1:c.1438A>G, XM_047418365.1:c.1399A>G, XM_047418360.1:c.1348A>G, XM_047418361.1:c.1312A>G, XM_047418362.1:c.1309A>G, XM_047418366.1:c.1351A>G, XM_047418367.1:c.1309A>G, NP_694587.3:p.Thr380Ala, XP_016865929.1:p.Thr622Ala, XP_016865930.1:p.Thr621Ala, XP_005248982.1:p.Thr613Ala, XP_016865932.1:p.Thr622Ala, XP_016865931.1:p.Thr592Ala, XP_016865934.1:p.Thr490Ala, XP_011512687.1:p.Thr481Ala, XP_011512688.1:p.Thr480Ala, XP_005248985.1:p.Thr468Ala, NP_001351543.1:p.Thr612Ala, XP_047274310.1:p.Thr621Ala, XP_047274311.1:p.Thr613Ala, XP_047274312.1:p.Thr612Ala, XP_047274308.1:p.Thr583Ala, XP_047274309.1:p.Thr582Ala, XP_047274314.1:p.Thr582Ala, XP_047274313.1:p.Thr489Ala, XP_047274315.1:p.Thr467Ala, XP_047274319.1:p.Thr481Ala, XP_047274320.1:p.Thr480Ala, XP_047274321.1:p.Thr467Ala, XP_047274316.1:p.Thr450Ala, XP_047274317.1:p.Thr438Ala, XP_047274318.1:p.Thr437Ala, XP_047274322.1:p.Thr451Ala, XP_047274323.1:p.Thr437Ala

          5.

          rs1483695345 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:18201563 (GRCh38)
            6:18201794 (GRCh37)
            Canonical SPDI:
            NC_000006.12:18201562:T:C
            Gene:
            KDM1B (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000006.12:g.18201563T>C, NC_000006.11:g.18201794T>C, XM_017010440.3:c.1464T>C, XM_017010440.2:c.1464T>C, XM_017010440.1:c.1464T>C, XM_017010441.3:c.1464T>C, XM_017010441.2:c.1464T>C, XM_017010441.1:c.1464T>C, XM_005248925.3:c.1437T>C, XM_005248925.2:c.1437T>C, XM_005248925.1:c.1437T>C, XM_017010443.3:c.1464T>C, XM_017010443.2:c.1464T>C, XM_017010443.1:c.1464T>C, XM_017010442.3:c.1374T>C, XM_017010442.2:c.1374T>C, XM_017010442.1:c.1374T>C, XM_017010445.3:c.1068T>C, XM_017010445.2:c.1068T>C, XM_017010445.1:c.1068T>C, XM_011514385.3:c.1041T>C, XM_011514385.2:c.1041T>C, XM_011514385.1:c.1041T>C, XM_011514386.3:c.1041T>C, XM_011514386.2:c.1041T>C, XM_011514386.1:c.1041T>C, XM_005248928.3:c.1002T>C, XM_005248928.2:c.1002T>C, XM_005248928.1:c.1002T>C, NM_001364614.2:c.1437T>C, NM_001364614.1:c.1437T>C, XM_047418354.1:c.1464T>C, XM_047418355.1:c.1437T>C, XM_047418356.1:c.1437T>C, XM_047418352.1:c.1347T>C, XM_047418353.1:c.1347T>C, XM_047418358.1:c.1347T>C, XM_047418357.1:c.1068T>C, XM_047418359.1:c.1002T>C, XM_047418363.1:c.1041T>C, XM_047418364.1:c.1041T>C, XM_047418365.1:c.1002T>C, XM_047418360.1:c.951T>C, XM_047418361.1:c.912T>C, XM_047418362.1:c.912T>C, XM_047418366.1:c.951T>C, XM_047418367.1:c.912T>C

            6.

            rs1483588090 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              6:18197216 (GRCh38)
              6:18197447 (GRCh37)
              Canonical SPDI:
              NC_000006.12:18197215:C:G
              Gene:
              KDM1B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000015/4 (TOPMED)
              HGVS:
              NC_000006.12:g.18197216C>G, NC_000006.11:g.18197447C>G, NM_153042.4:c.733C>G, NM_153042.3:c.733C>G, XM_017010440.3:c.1156C>G, XM_017010440.2:c.1156C>G, XM_017010440.1:c.1156C>G, XM_017010441.3:c.1156C>G, XM_017010441.2:c.1156C>G, XM_017010441.1:c.1156C>G, XM_005248925.3:c.1129C>G, XM_005248925.2:c.1129C>G, XM_005248925.1:c.1129C>G, XM_017010443.3:c.1156C>G, XM_017010443.2:c.1156C>G, XM_017010443.1:c.1156C>G, XM_017010442.3:c.1066C>G, XM_017010442.2:c.1066C>G, XM_017010442.1:c.1066C>G, XM_017010445.3:c.760C>G, XM_017010445.2:c.760C>G, XM_017010445.1:c.760C>G, XM_011514385.3:c.733C>G, XM_011514385.2:c.733C>G, XM_011514385.1:c.733C>G, XM_011514386.3:c.733C>G, XM_011514386.2:c.733C>G, XM_011514386.1:c.733C>G, XM_005248928.3:c.694C>G, XM_005248928.2:c.694C>G, XM_005248928.1:c.694C>G, NM_001364614.2:c.1129C>G, NM_001364614.1:c.1129C>G, XM_017010446.2:c.1156C>G, XM_017010446.1:c.1156C>G, XM_047418354.1:c.1156C>G, XM_047418355.1:c.1129C>G, XM_047418356.1:c.1129C>G, XM_047418352.1:c.1039C>G, XM_047418353.1:c.1039C>G, XM_047418358.1:c.1039C>G, XM_047418357.1:c.760C>G, XM_047418359.1:c.694C>G, XM_047418363.1:c.733C>G, XM_047418364.1:c.733C>G, XM_047418365.1:c.694C>G, XM_047418360.1:c.643C>G, XM_047418361.1:c.604C>G, XM_047418362.1:c.604C>G, XM_047418366.1:c.643C>G, XM_047418367.1:c.604C>G, XM_047418368.1:c.1129C>G, NP_694587.3:p.Pro245Ala, XP_016865929.1:p.Pro386Ala, XP_016865930.1:p.Pro386Ala, XP_005248982.1:p.Pro377Ala, XP_016865932.1:p.Pro386Ala, XP_016865931.1:p.Pro356Ala, XP_016865934.1:p.Pro254Ala, XP_011512687.1:p.Pro245Ala, XP_011512688.1:p.Pro245Ala, XP_005248985.1:p.Pro232Ala, NP_001351543.1:p.Pro377Ala, XP_016865935.1:p.Pro386Ala, XP_047274310.1:p.Pro386Ala, XP_047274311.1:p.Pro377Ala, XP_047274312.1:p.Pro377Ala, XP_047274308.1:p.Pro347Ala, XP_047274309.1:p.Pro347Ala, XP_047274314.1:p.Pro347Ala, XP_047274313.1:p.Pro254Ala, XP_047274315.1:p.Pro232Ala, XP_047274319.1:p.Pro245Ala, XP_047274320.1:p.Pro245Ala, XP_047274321.1:p.Pro232Ala, XP_047274316.1:p.Pro215Ala, XP_047274317.1:p.Pro202Ala, XP_047274318.1:p.Pro202Ala, XP_047274322.1:p.Pro215Ala, XP_047274323.1:p.Pro202Ala, XP_047274324.1:p.Pro377Ala

              7.

              rs1482657722 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                6:18197595 (GRCh38)
                6:18197826 (GRCh37)
                Canonical SPDI:
                NC_000006.12:18197594:C:A
                Gene:
                KDM1B (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.18197595C>A, NC_000006.11:g.18197826C>A, NM_153042.4:c.759C>A, NM_153042.3:c.759C>A, XM_017010440.3:c.1182C>A, XM_017010440.2:c.1182C>A, XM_017010440.1:c.1182C>A, XM_017010441.3:c.1182C>A, XM_017010441.2:c.1182C>A, XM_017010441.1:c.1182C>A, XM_005248925.3:c.1155C>A, XM_005248925.2:c.1155C>A, XM_005248925.1:c.1155C>A, XM_017010443.3:c.1182C>A, XM_017010443.2:c.1182C>A, XM_017010443.1:c.1182C>A, XM_017010442.3:c.1092C>A, XM_017010442.2:c.1092C>A, XM_017010442.1:c.1092C>A, XM_017010445.3:c.786C>A, XM_017010445.2:c.786C>A, XM_017010445.1:c.786C>A, XM_011514385.3:c.759C>A, XM_011514385.2:c.759C>A, XM_011514385.1:c.759C>A, XM_011514386.3:c.759C>A, XM_011514386.2:c.759C>A, XM_011514386.1:c.759C>A, XM_005248928.3:c.720C>A, XM_005248928.2:c.720C>A, XM_005248928.1:c.720C>A, NM_001364614.2:c.1155C>A, NM_001364614.1:c.1155C>A, XM_017010446.2:c.1182C>A, XM_017010446.1:c.1182C>A, XM_047418354.1:c.1182C>A, XM_047418355.1:c.1155C>A, XM_047418356.1:c.1155C>A, XM_047418352.1:c.1065C>A, XM_047418353.1:c.1065C>A, XM_047418358.1:c.1065C>A, XM_047418357.1:c.786C>A, XM_047418359.1:c.720C>A, XM_047418363.1:c.759C>A, XM_047418364.1:c.759C>A, XM_047418365.1:c.720C>A, XM_047418360.1:c.669C>A, XM_047418361.1:c.630C>A, XM_047418362.1:c.630C>A, XM_047418366.1:c.669C>A, XM_047418367.1:c.630C>A, XM_047418368.1:c.1155C>A

                8.

                rs1480482525 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:18191348 (GRCh38)
                  6:18191579 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:18191347:C:T
                  Gene:
                  KDM1B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000056/2 (ALFA)
                  T=0.000013/2 (GnomAD_exomes)
                  T=0.000014/2 (GnomAD)
                  T=0.000015/4 (TOPMED)
                  HGVS:

                  9.

                  rs1480413793 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    6:18208188 (GRCh38)
                    6:18208419 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:18208187:A:C
                    Gene:
                    KDM1B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000111/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.18208188A>C, NC_000006.11:g.18208419A>C, NM_153042.4:c.1152A>C, NM_153042.3:c.1152A>C, XM_017010440.3:c.1878A>C, XM_017010440.2:c.1878A>C, XM_017010440.1:c.1878A>C, XM_017010441.3:c.1875A>C, XM_017010441.2:c.1875A>C, XM_017010441.1:c.1875A>C, XM_005248925.3:c.1851A>C, XM_005248925.2:c.1851A>C, XM_005248925.1:c.1851A>C, XM_017010443.3:c.1878A>C, XM_017010443.2:c.1878A>C, XM_017010443.1:c.1878A>C, XM_017010442.3:c.1788A>C, XM_017010442.2:c.1788A>C, XM_017010442.1:c.1788A>C, XM_017010445.3:c.1482A>C, XM_017010445.2:c.1482A>C, XM_017010445.1:c.1482A>C, XM_011514385.3:c.1455A>C, XM_011514385.2:c.1455A>C, XM_011514385.1:c.1455A>C, XM_011514386.3:c.1452A>C, XM_011514386.2:c.1452A>C, XM_011514386.1:c.1452A>C, XM_005248928.3:c.1416A>C, XM_005248928.2:c.1416A>C, XM_005248928.1:c.1416A>C, NM_001364614.2:c.1848A>C, NM_001364614.1:c.1848A>C, XM_047418354.1:c.1875A>C, XM_047418355.1:c.1851A>C, XM_047418356.1:c.1848A>C, XM_047418352.1:c.1761A>C, XM_047418353.1:c.1758A>C, XM_047418358.1:c.1758A>C, XM_047418357.1:c.1479A>C, XM_047418359.1:c.1413A>C, XM_047418363.1:c.1455A>C, XM_047418364.1:c.1452A>C, XM_047418365.1:c.1413A>C, XM_047418360.1:c.1362A>C, XM_047418361.1:c.1326A>C, XM_047418362.1:c.1323A>C, XM_047418366.1:c.1365A>C, XM_047418367.1:c.1323A>C

                    10.

                    rs1477517611 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:18191205 (GRCh38)
                      6:18191436 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:18191204:A:G
                      Gene:
                      KDM1B (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000007/1 (GnomAD_exomes)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000006.12:g.18191205A>G, NC_000006.11:g.18191436A>G, XM_017010440.3:c.820A>G, XM_017010440.2:c.820A>G, XM_017010440.1:c.820A>G, XM_017010441.3:c.820A>G, XM_017010441.2:c.820A>G, XM_017010441.1:c.820A>G, XM_005248925.3:c.793A>G, XM_005248925.2:c.793A>G, XM_005248925.1:c.793A>G, XM_017010443.3:c.820A>G, XM_017010443.2:c.820A>G, XM_017010443.1:c.820A>G, XM_017010442.3:c.730A>G, XM_017010442.2:c.730A>G, XM_017010442.1:c.730A>G, NM_001364614.2:c.793A>G, NM_001364614.1:c.793A>G, XM_017010446.2:c.820A>G, XM_017010446.1:c.820A>G, XM_047418354.1:c.820A>G, XM_047418355.1:c.793A>G, XM_047418356.1:c.793A>G, XM_047418352.1:c.703A>G, XM_047418353.1:c.703A>G, XM_047418358.1:c.703A>G, XM_047418368.1:c.793A>G, XP_016865929.1:p.Met274Val, XP_016865930.1:p.Met274Val, XP_005248982.1:p.Met265Val, XP_016865932.1:p.Met274Val, XP_016865931.1:p.Met244Val, NP_001351543.1:p.Met265Val, XP_016865935.1:p.Met274Val, XP_047274310.1:p.Met274Val, XP_047274311.1:p.Met265Val, XP_047274312.1:p.Met265Val, XP_047274308.1:p.Met235Val, XP_047274309.1:p.Met235Val, XP_047274314.1:p.Met235Val, XP_047274324.1:p.Met265Val

                      11.

                      rs1477470691 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        6:18166308 (GRCh38)
                        6:18166539 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:18166307:T:A
                        Gene:
                        KDM1B (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.18166308T>A, NC_000006.11:g.18166539T>A, NM_153042.4:c.347T>A, NM_153042.3:c.347T>A, XM_017010440.3:c.347T>A, XM_017010440.2:c.347T>A, XM_017010440.1:c.347T>A, XM_017010441.3:c.347T>A, XM_017010441.2:c.347T>A, XM_017010441.1:c.347T>A, XM_005248925.3:c.347T>A, XM_005248925.2:c.347T>A, XM_005248925.1:c.347T>A, XM_017010443.3:c.347T>A, XM_017010443.2:c.347T>A, XM_017010443.1:c.347T>A, XM_017010442.3:c.257T>A, XM_017010442.2:c.257T>A, XM_017010442.1:c.257T>A, XM_017010445.3:c.347T>A, XM_017010445.2:c.347T>A, XM_017010445.1:c.347T>A, XM_011514385.3:c.347T>A, XM_011514385.2:c.347T>A, XM_011514385.1:c.347T>A, XM_011514386.3:c.347T>A, XM_011514386.2:c.347T>A, XM_011514386.1:c.347T>A, XM_005248928.3:c.347T>A, XM_005248928.2:c.347T>A, XM_005248928.1:c.347T>A, NM_001364614.2:c.347T>A, NM_001364614.1:c.347T>A, XM_017010446.2:c.347T>A, XM_017010446.1:c.347T>A, XM_047418354.1:c.347T>A, XM_047418355.1:c.347T>A, XM_047418356.1:c.347T>A, XM_047418352.1:c.257T>A, XM_047418353.1:c.257T>A, XM_047418358.1:c.257T>A, XM_047418357.1:c.347T>A, XM_047418359.1:c.347T>A, XM_047418363.1:c.347T>A, XM_047418364.1:c.347T>A, XM_047418365.1:c.347T>A, XM_047418360.1:c.257T>A, XM_047418361.1:c.257T>A, XM_047418362.1:c.257T>A, XM_047418366.1:c.257T>A, XM_047418367.1:c.257T>A, XM_047418368.1:c.347T>A, NP_694587.3:p.Ile116Lys, XP_016865929.1:p.Ile116Lys, XP_016865930.1:p.Ile116Lys, XP_005248982.1:p.Ile116Lys, XP_016865932.1:p.Ile116Lys, XP_016865931.1:p.Ile86Lys, XP_016865934.1:p.Ile116Lys, XP_011512687.1:p.Ile116Lys, XP_011512688.1:p.Ile116Lys, XP_005248985.1:p.Ile116Lys, NP_001351543.1:p.Ile116Lys, XP_016865935.1:p.Ile116Lys, XP_047274310.1:p.Ile116Lys, XP_047274311.1:p.Ile116Lys, XP_047274312.1:p.Ile116Lys, XP_047274308.1:p.Ile86Lys, XP_047274309.1:p.Ile86Lys, XP_047274314.1:p.Ile86Lys, XP_047274313.1:p.Ile116Lys, XP_047274315.1:p.Ile116Lys, XP_047274319.1:p.Ile116Lys, XP_047274320.1:p.Ile116Lys, XP_047274321.1:p.Ile116Lys, XP_047274316.1:p.Ile86Lys, XP_047274317.1:p.Ile86Lys, XP_047274318.1:p.Ile86Lys, XP_047274322.1:p.Ile86Lys, XP_047274323.1:p.Ile86Lys, XP_047274324.1:p.Ile116Lys

                        12.

                        rs1476221760 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:18213751 (GRCh38)
                          6:18213982 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:18213750:T:C
                          Gene:
                          KDM1B (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000006.12:g.18213751T>C, NC_000006.11:g.18213982T>C, NM_153042.4:c.1383T>C, NM_153042.3:c.1383T>C, XM_017010440.3:c.2109T>C, XM_017010440.2:c.2109T>C, XM_017010440.1:c.2109T>C, XM_017010441.3:c.2106T>C, XM_017010441.2:c.2106T>C, XM_017010441.1:c.2106T>C, XM_005248925.3:c.2082T>C, XM_005248925.2:c.2082T>C, XM_005248925.1:c.2082T>C, XM_017010443.3:c.2109T>C, XM_017010443.2:c.2109T>C, XM_017010443.1:c.2109T>C, XM_017010442.3:c.2019T>C, XM_017010442.2:c.2019T>C, XM_017010442.1:c.2019T>C, XM_017010445.3:c.1713T>C, XM_017010445.2:c.1713T>C, XM_017010445.1:c.1713T>C, XM_011514385.3:c.1686T>C, XM_011514385.2:c.1686T>C, XM_011514385.1:c.1686T>C, XM_011514386.3:c.1683T>C, XM_011514386.2:c.1683T>C, XM_011514386.1:c.1683T>C, XM_005248928.3:c.1647T>C, XM_005248928.2:c.1647T>C, XM_005248928.1:c.1647T>C, NM_001364614.2:c.2079T>C, NM_001364614.1:c.2079T>C, XM_047418354.1:c.2106T>C, XM_047418355.1:c.2082T>C, XM_047418356.1:c.2079T>C, XM_047418352.1:c.1992T>C, XM_047418353.1:c.1989T>C, XM_047418358.1:c.1989T>C, XM_047418357.1:c.1710T>C, XM_047418359.1:c.1644T>C, XM_047418363.1:c.1686T>C, XM_047418364.1:c.1683T>C, XM_047418365.1:c.1644T>C, XM_047418360.1:c.1593T>C, XM_047418361.1:c.1557T>C, XM_047418362.1:c.1554T>C, XM_047418366.1:c.1596T>C, XM_047418367.1:c.1554T>C

                          13.

                          rs1473858123 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ATTCA>- [Show Flanks]
                            Chromosome:
                            6:18201528 (GRCh38)
                            6:18201759 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:18201526:AATTCA:A
                            Gene:
                            KDM1B (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000006.12:g.18201528_18201532del, NC_000006.11:g.18201759_18201763del, XM_017010440.3:c.1429_1433del, XM_017010440.2:c.1429_1433del, XM_017010440.1:c.1429_1433del, XM_017010441.3:c.1429_1433del, XM_017010441.2:c.1429_1433del, XM_017010441.1:c.1429_1433del, XM_005248925.3:c.1402_1406del, XM_005248925.2:c.1402_1406del, XM_005248925.1:c.1402_1406del, XM_017010443.3:c.1429_1433del, XM_017010443.2:c.1429_1433del, XM_017010443.1:c.1429_1433del, XM_017010442.3:c.1339_1343del, XM_017010442.2:c.1339_1343del, XM_017010442.1:c.1339_1343del, XM_017010445.3:c.1033_1037del, XM_017010445.2:c.1033_1037del, XM_017010445.1:c.1033_1037del, XM_011514385.3:c.1006_1010del, XM_011514385.2:c.1006_1010del, XM_011514385.1:c.1006_1010del, XM_011514386.3:c.1006_1010del, XM_011514386.2:c.1006_1010del, XM_011514386.1:c.1006_1010del, XM_005248928.3:c.967_971del, XM_005248928.2:c.967_971del, XM_005248928.1:c.967_971del, NM_001364614.2:c.1402_1406del, NM_001364614.1:c.1402_1406del, XM_047418354.1:c.1429_1433del, XM_047418355.1:c.1402_1406del, XM_047418356.1:c.1402_1406del, XM_047418352.1:c.1312_1316del, XM_047418353.1:c.1312_1316del, XM_047418358.1:c.1312_1316del, XM_047418357.1:c.1033_1037del, XM_047418359.1:c.967_971del, XM_047418363.1:c.1006_1010del, XM_047418364.1:c.1006_1010del, XM_047418365.1:c.967_971del, XM_047418360.1:c.916_920del, XM_047418361.1:c.877_881del, XM_047418362.1:c.877_881del, XM_047418366.1:c.916_920del, XM_047418367.1:c.877_881del, XP_016865929.1:p.Ile477fs, XP_016865930.1:p.Ile477fs, XP_005248982.1:p.Ile468fs, XP_016865932.1:p.Ile477fs, XP_016865931.1:p.Ile447fs, XP_016865934.1:p.Ile345fs, XP_011512687.1:p.Ile336fs, XP_011512688.1:p.Ile336fs, XP_005248985.1:p.Ile323fs, NP_001351543.1:p.Ile468fs, XP_047274310.1:p.Ile477fs, XP_047274311.1:p.Ile468fs, XP_047274312.1:p.Ile468fs, XP_047274308.1:p.Ile438fs, XP_047274309.1:p.Ile438fs, XP_047274314.1:p.Ile438fs, XP_047274313.1:p.Ile345fs, XP_047274315.1:p.Ile323fs, XP_047274319.1:p.Ile336fs, XP_047274320.1:p.Ile336fs, XP_047274321.1:p.Ile323fs, XP_047274316.1:p.Ile306fs, XP_047274317.1:p.Ile293fs, XP_047274318.1:p.Ile293fs, XP_047274322.1:p.Ile306fs, XP_047274323.1:p.Ile293fs

                            14.

                            rs1472189801 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:18159917 (GRCh38)
                              6:18160148 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:18159916:A:G
                              Gene:
                              KDM1B (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              NC_000006.12:g.18159917A>G, NC_000006.11:g.18160148A>G, NG_012137.3:g.227T>C, NM_153042.4:c.22A>G, NM_153042.3:c.22A>G, XM_017010440.3:c.22A>G, XM_017010440.2:c.22A>G, XM_017010440.1:c.22A>G, XM_017010441.3:c.22A>G, XM_017010441.2:c.22A>G, XM_017010441.1:c.22A>G, XM_005248925.3:c.22A>G, XM_005248925.2:c.22A>G, XM_005248925.1:c.22A>G, XM_017010443.3:c.22A>G, XM_017010443.2:c.22A>G, XM_017010443.1:c.22A>G, XM_017010442.3:c.22A>G, XM_017010442.2:c.22A>G, XM_017010442.1:c.22A>G, XM_017010445.3:c.22A>G, XM_017010445.2:c.22A>G, XM_017010445.1:c.22A>G, XM_011514385.3:c.22A>G, XM_011514385.2:c.22A>G, XM_011514385.1:c.22A>G, XM_011514386.3:c.22A>G, XM_011514386.2:c.22A>G, XM_011514386.1:c.22A>G, XM_005248928.3:c.22A>G, XM_005248928.2:c.22A>G, XM_005248928.1:c.22A>G, NM_001364614.2:c.22A>G, NM_001364614.1:c.22A>G, XM_017010446.2:c.22A>G, XM_017010446.1:c.22A>G, XM_047418354.1:c.22A>G, XM_047418355.1:c.22A>G, XM_047418356.1:c.22A>G, XM_047418352.1:c.22A>G, XM_047418353.1:c.22A>G, XM_047418358.1:c.22A>G, XM_047418357.1:c.22A>G, XM_047418359.1:c.22A>G, XM_047418363.1:c.22A>G, XM_047418364.1:c.22A>G, XM_047418365.1:c.22A>G, XM_047418360.1:c.22A>G, XM_047418361.1:c.22A>G, XM_047418362.1:c.22A>G, XM_047418366.1:c.22A>G, XM_047418367.1:c.22A>G, XM_047418368.1:c.22A>G, NP_694587.3:p.Thr8Ala, XP_016865929.1:p.Thr8Ala, XP_016865930.1:p.Thr8Ala, XP_005248982.1:p.Thr8Ala, XP_016865932.1:p.Thr8Ala, XP_016865931.1:p.Thr8Ala, XP_016865934.1:p.Thr8Ala, XP_011512687.1:p.Thr8Ala, XP_011512688.1:p.Thr8Ala, XP_005248985.1:p.Thr8Ala, NP_001351543.1:p.Thr8Ala, XP_016865935.1:p.Thr8Ala, XP_047274310.1:p.Thr8Ala, XP_047274311.1:p.Thr8Ala, XP_047274312.1:p.Thr8Ala, XP_047274308.1:p.Thr8Ala, XP_047274309.1:p.Thr8Ala, XP_047274314.1:p.Thr8Ala, XP_047274313.1:p.Thr8Ala, XP_047274315.1:p.Thr8Ala, XP_047274319.1:p.Thr8Ala, XP_047274320.1:p.Thr8Ala, XP_047274321.1:p.Thr8Ala, XP_047274316.1:p.Thr8Ala, XP_047274317.1:p.Thr8Ala, XP_047274318.1:p.Thr8Ala, XP_047274322.1:p.Thr8Ala, XP_047274323.1:p.Thr8Ala, XP_047274324.1:p.Thr8Ala

                              15.

                              rs1471652199 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:18187829 (GRCh38)
                                6:18188060 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:18187828:T:C
                                Gene:
                                KDM1B (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.18187829T>C, NC_000006.11:g.18188060T>C, XM_017010440.3:c.638T>C, XM_017010440.2:c.638T>C, XM_017010440.1:c.638T>C, XM_017010441.3:c.638T>C, XM_017010441.2:c.638T>C, XM_017010441.1:c.638T>C, XM_005248925.3:c.611T>C, XM_005248925.2:c.611T>C, XM_005248925.1:c.611T>C, XM_017010443.3:c.638T>C, XM_017010443.2:c.638T>C, XM_017010443.1:c.638T>C, XM_017010442.3:c.548T>C, XM_017010442.2:c.548T>C, XM_017010442.1:c.548T>C, NM_001364614.2:c.611T>C, NM_001364614.1:c.611T>C, XM_017010446.2:c.638T>C, XM_017010446.1:c.638T>C, XM_047418354.1:c.638T>C, XM_047418355.1:c.611T>C, XM_047418356.1:c.611T>C, XM_047418352.1:c.521T>C, XM_047418353.1:c.521T>C, XM_047418358.1:c.521T>C, XM_047418368.1:c.611T>C, XP_016865929.1:p.Met213Thr, XP_016865930.1:p.Met213Thr, XP_005248982.1:p.Met204Thr, XP_016865932.1:p.Met213Thr, XP_016865931.1:p.Met183Thr, NP_001351543.1:p.Met204Thr, XP_016865935.1:p.Met213Thr, XP_047274310.1:p.Met213Thr, XP_047274311.1:p.Met204Thr, XP_047274312.1:p.Met204Thr, XP_047274308.1:p.Met174Thr, XP_047274309.1:p.Met174Thr, XP_047274314.1:p.Met174Thr, XP_047274324.1:p.Met204Thr

                                16.

                                rs1471470131 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:18191358 (GRCh38)
                                  6:18191589 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:18191357:G:A
                                  Gene:
                                  KDM1B (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000083/2 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000007/1 (GnomAD_exomes)
                                  A=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000006.12:g.18191358G>A, NC_000006.11:g.18191589G>A, XM_017010440.3:c.973G>A, XM_017010440.2:c.973G>A, XM_017010440.1:c.973G>A, XM_017010441.3:c.973G>A, XM_017010441.2:c.973G>A, XM_017010441.1:c.973G>A, XM_005248925.3:c.946G>A, XM_005248925.2:c.946G>A, XM_005248925.1:c.946G>A, XM_017010443.3:c.973G>A, XM_017010443.2:c.973G>A, XM_017010443.1:c.973G>A, XM_017010442.3:c.883G>A, XM_017010442.2:c.883G>A, XM_017010442.1:c.883G>A, NM_001364614.2:c.946G>A, NM_001364614.1:c.946G>A, XM_017010446.2:c.973G>A, XM_017010446.1:c.973G>A, XM_047418354.1:c.973G>A, XM_047418355.1:c.946G>A, XM_047418356.1:c.946G>A, XM_047418352.1:c.856G>A, XM_047418353.1:c.856G>A, XM_047418358.1:c.856G>A, XM_047418368.1:c.946G>A, XP_016865929.1:p.Ala325Thr, XP_016865930.1:p.Ala325Thr, XP_005248982.1:p.Ala316Thr, XP_016865932.1:p.Ala325Thr, XP_016865931.1:p.Ala295Thr, NP_001351543.1:p.Ala316Thr, XP_016865935.1:p.Ala325Thr, XP_047274310.1:p.Ala325Thr, XP_047274311.1:p.Ala316Thr, XP_047274312.1:p.Ala316Thr, XP_047274308.1:p.Ala286Thr, XP_047274309.1:p.Ala286Thr, XP_047274314.1:p.Ala286Thr, XP_047274324.1:p.Ala316Thr

                                  17.

                                  rs1471104439 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:18217814 (GRCh38)
                                    6:18218045 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:18217813:A:G
                                    Gene:
                                    KDM1B (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000006.12:g.18217814A>G, NC_000006.11:g.18218045A>G, NM_153042.4:c.1618A>G, NM_153042.3:c.1618A>G, XM_017010440.3:c.2344A>G, XM_017010440.2:c.2344A>G, XM_017010440.1:c.2344A>G, XM_017010441.3:c.2341A>G, XM_017010441.2:c.2341A>G, XM_017010441.1:c.2341A>G, XM_005248925.3:c.2317A>G, XM_005248925.2:c.2317A>G, XM_005248925.1:c.2317A>G, XM_017010443.3:c.2344A>G, XM_017010443.2:c.2344A>G, XM_017010443.1:c.2344A>G, XM_017010442.3:c.2254A>G, XM_017010442.2:c.2254A>G, XM_017010442.1:c.2254A>G, XM_017010445.3:c.1948A>G, XM_017010445.2:c.1948A>G, XM_017010445.1:c.1948A>G, XM_011514385.3:c.1921A>G, XM_011514385.2:c.1921A>G, XM_011514385.1:c.1921A>G, XM_011514386.3:c.1918A>G, XM_011514386.2:c.1918A>G, XM_011514386.1:c.1918A>G, XM_005248928.3:c.1882A>G, XM_005248928.2:c.1882A>G, XM_005248928.1:c.1882A>G, NM_001364614.2:c.2314A>G, NM_001364614.1:c.2314A>G, XM_047418354.1:c.2341A>G, XM_047418355.1:c.2317A>G, XM_047418356.1:c.2314A>G, XM_047418352.1:c.2227A>G, XM_047418353.1:c.2224A>G, XM_047418358.1:c.2224A>G, XM_047418357.1:c.1945A>G, XM_047418359.1:c.1879A>G, XM_047418363.1:c.1921A>G, XM_047418364.1:c.1918A>G, XM_047418365.1:c.1879A>G, XM_047418360.1:c.1828A>G, XM_047418361.1:c.1792A>G, XM_047418362.1:c.1789A>G, XM_047418366.1:c.1831A>G, XM_047418367.1:c.1789A>G, NP_694587.3:p.Thr540Ala, XP_016865929.1:p.Thr782Ala, XP_016865930.1:p.Thr781Ala, XP_005248982.1:p.Thr773Ala, XP_016865932.1:p.Thr782Ala, XP_016865931.1:p.Thr752Ala, XP_016865934.1:p.Thr650Ala, XP_011512687.1:p.Thr641Ala, XP_011512688.1:p.Thr640Ala, XP_005248985.1:p.Thr628Ala, NP_001351543.1:p.Thr772Ala, XP_047274310.1:p.Thr781Ala, XP_047274311.1:p.Thr773Ala, XP_047274312.1:p.Thr772Ala, XP_047274308.1:p.Thr743Ala, XP_047274309.1:p.Thr742Ala, XP_047274314.1:p.Thr742Ala, XP_047274313.1:p.Thr649Ala, XP_047274315.1:p.Thr627Ala, XP_047274319.1:p.Thr641Ala, XP_047274320.1:p.Thr640Ala, XP_047274321.1:p.Thr627Ala, XP_047274316.1:p.Thr610Ala, XP_047274317.1:p.Thr598Ala, XP_047274318.1:p.Thr597Ala, XP_047274322.1:p.Thr611Ala, XP_047274323.1:p.Thr597Ala

                                    18.

                                    rs1470989422 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:18171465 (GRCh38)
                                      6:18171696 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:18171464:A:G
                                      Gene:
                                      KDM1B (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_000006.12:g.18171465A>G, NC_000006.11:g.18171696A>G, NM_153042.4:c.520A>G, NM_153042.3:c.520A>G, XM_017010440.3:c.520A>G, XM_017010440.2:c.520A>G, XM_017010440.1:c.520A>G, XM_017010441.3:c.520A>G, XM_017010441.2:c.520A>G, XM_017010441.1:c.520A>G, XM_005248925.3:c.520A>G, XM_005248925.2:c.520A>G, XM_005248925.1:c.520A>G, XM_017010443.3:c.520A>G, XM_017010443.2:c.520A>G, XM_017010443.1:c.520A>G, XM_017010442.3:c.430A>G, XM_017010442.2:c.430A>G, XM_017010442.1:c.430A>G, XM_017010445.3:c.520A>G, XM_017010445.2:c.520A>G, XM_017010445.1:c.520A>G, XM_011514385.3:c.520A>G, XM_011514385.2:c.520A>G, XM_011514385.1:c.520A>G, XM_011514386.3:c.520A>G, XM_011514386.2:c.520A>G, XM_011514386.1:c.520A>G, XM_005248928.3:c.520A>G, XM_005248928.2:c.520A>G, XM_005248928.1:c.520A>G, NM_001364614.2:c.520A>G, NM_001364614.1:c.520A>G, XM_017010446.2:c.520A>G, XM_017010446.1:c.520A>G, XM_047418354.1:c.520A>G, XM_047418355.1:c.520A>G, XM_047418356.1:c.520A>G, XM_047418352.1:c.430A>G, XM_047418353.1:c.430A>G, XM_047418358.1:c.430A>G, XM_047418357.1:c.520A>G, XM_047418359.1:c.520A>G, XM_047418363.1:c.520A>G, XM_047418364.1:c.520A>G, XM_047418365.1:c.520A>G, XM_047418360.1:c.430A>G, XM_047418361.1:c.430A>G, XM_047418362.1:c.430A>G, XM_047418366.1:c.430A>G, XM_047418367.1:c.430A>G, XM_047418368.1:c.520A>G, NP_694587.3:p.Asn174Asp, XP_016865929.1:p.Asn174Asp, XP_016865930.1:p.Asn174Asp, XP_005248982.1:p.Asn174Asp, XP_016865932.1:p.Asn174Asp, XP_016865931.1:p.Asn144Asp, XP_016865934.1:p.Asn174Asp, XP_011512687.1:p.Asn174Asp, XP_011512688.1:p.Asn174Asp, XP_005248985.1:p.Asn174Asp, NP_001351543.1:p.Asn174Asp, XP_016865935.1:p.Asn174Asp, XP_047274310.1:p.Asn174Asp, XP_047274311.1:p.Asn174Asp, XP_047274312.1:p.Asn174Asp, XP_047274308.1:p.Asn144Asp, XP_047274309.1:p.Asn144Asp, XP_047274314.1:p.Asn144Asp, XP_047274313.1:p.Asn174Asp, XP_047274315.1:p.Asn174Asp, XP_047274319.1:p.Asn174Asp, XP_047274320.1:p.Asn174Asp, XP_047274321.1:p.Asn174Asp, XP_047274316.1:p.Asn144Asp, XP_047274317.1:p.Asn144Asp, XP_047274318.1:p.Asn144Asp, XP_047274322.1:p.Asn144Asp, XP_047274323.1:p.Asn144Asp, XP_047274324.1:p.Asn174Asp

                                      19.

                                      rs1470563772 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        6:18191223 (GRCh38)
                                        6:18191454 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:18191222:C:A
                                        Gene:
                                        KDM1B (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.18191223C>A, NC_000006.11:g.18191454C>A, XM_017010440.3:c.838C>A, XM_017010440.2:c.838C>A, XM_017010440.1:c.838C>A, XM_017010441.3:c.838C>A, XM_017010441.2:c.838C>A, XM_017010441.1:c.838C>A, XM_005248925.3:c.811C>A, XM_005248925.2:c.811C>A, XM_005248925.1:c.811C>A, XM_017010443.3:c.838C>A, XM_017010443.2:c.838C>A, XM_017010443.1:c.838C>A, XM_017010442.3:c.748C>A, XM_017010442.2:c.748C>A, XM_017010442.1:c.748C>A, NM_001364614.2:c.811C>A, NM_001364614.1:c.811C>A, XM_017010446.2:c.838C>A, XM_017010446.1:c.838C>A, XM_047418354.1:c.838C>A, XM_047418355.1:c.811C>A, XM_047418356.1:c.811C>A, XM_047418352.1:c.721C>A, XM_047418353.1:c.721C>A, XM_047418358.1:c.721C>A, XM_047418368.1:c.811C>A, XP_016865929.1:p.Pro280Thr, XP_016865930.1:p.Pro280Thr, XP_005248982.1:p.Pro271Thr, XP_016865932.1:p.Pro280Thr, XP_016865931.1:p.Pro250Thr, NP_001351543.1:p.Pro271Thr, XP_016865935.1:p.Pro280Thr, XP_047274310.1:p.Pro280Thr, XP_047274311.1:p.Pro271Thr, XP_047274312.1:p.Pro271Thr, XP_047274308.1:p.Pro241Thr, XP_047274309.1:p.Pro241Thr, XP_047274314.1:p.Pro241Thr, XP_047274324.1:p.Pro271Thr

                                        20.

                                        rs1468140085 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          6:18215091 (GRCh38)
                                          6:18215322 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:18215090:C:A
                                          Gene:
                                          KDM1B (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000006.12:g.18215091C>A, NC_000006.11:g.18215322C>A, NM_153042.4:c.1498C>A, NM_153042.3:c.1498C>A, XM_017010440.3:c.2224C>A, XM_017010440.2:c.2224C>A, XM_017010440.1:c.2224C>A, XM_017010441.3:c.2221C>A, XM_017010441.2:c.2221C>A, XM_017010441.1:c.2221C>A, XM_005248925.3:c.2197C>A, XM_005248925.2:c.2197C>A, XM_005248925.1:c.2197C>A, XM_017010443.3:c.2224C>A, XM_017010443.2:c.2224C>A, XM_017010443.1:c.2224C>A, XM_017010442.3:c.2134C>A, XM_017010442.2:c.2134C>A, XM_017010442.1:c.2134C>A, XM_017010445.3:c.1828C>A, XM_017010445.2:c.1828C>A, XM_017010445.1:c.1828C>A, XM_011514385.3:c.1801C>A, XM_011514385.2:c.1801C>A, XM_011514385.1:c.1801C>A, XM_011514386.3:c.1798C>A, XM_011514386.2:c.1798C>A, XM_011514386.1:c.1798C>A, XM_005248928.3:c.1762C>A, XM_005248928.2:c.1762C>A, XM_005248928.1:c.1762C>A, NM_001364614.2:c.2194C>A, NM_001364614.1:c.2194C>A, XM_047418354.1:c.2221C>A, XM_047418355.1:c.2197C>A, XM_047418356.1:c.2194C>A, XM_047418352.1:c.2107C>A, XM_047418353.1:c.2104C>A, XM_047418358.1:c.2104C>A, XM_047418357.1:c.1825C>A, XM_047418359.1:c.1759C>A, XM_047418363.1:c.1801C>A, XM_047418364.1:c.1798C>A, XM_047418365.1:c.1759C>A, XM_047418360.1:c.1708C>A, XM_047418361.1:c.1672C>A, XM_047418362.1:c.1669C>A, XM_047418366.1:c.1711C>A, XM_047418367.1:c.1669C>A, NP_694587.3:p.Gln500Lys, XP_016865929.1:p.Gln742Lys, XP_016865930.1:p.Gln741Lys, XP_005248982.1:p.Gln733Lys, XP_016865932.1:p.Gln742Lys, XP_016865931.1:p.Gln712Lys, XP_016865934.1:p.Gln610Lys, XP_011512687.1:p.Gln601Lys, XP_011512688.1:p.Gln600Lys, XP_005248985.1:p.Gln588Lys, NP_001351543.1:p.Gln732Lys, XP_047274310.1:p.Gln741Lys, XP_047274311.1:p.Gln733Lys, XP_047274312.1:p.Gln732Lys, XP_047274308.1:p.Gln703Lys, XP_047274309.1:p.Gln702Lys, XP_047274314.1:p.Gln702Lys, XP_047274313.1:p.Gln609Lys, XP_047274315.1:p.Gln587Lys, XP_047274319.1:p.Gln601Lys, XP_047274320.1:p.Gln600Lys, XP_047274321.1:p.Gln587Lys, XP_047274316.1:p.Gln570Lys, XP_047274317.1:p.Gln558Lys, XP_047274318.1:p.Gln557Lys, XP_047274322.1:p.Gln571Lys, XP_047274323.1:p.Gln557Lys

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