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Items: 1 to 20 of 669

1.

rs1490163953 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    4:55443815 (GRCh38)
    4:56309982 (GRCh37)
    Canonical SPDI:
    NC_000004.12:55443814:G:A
    Gene:
    CLOCK (Varview), TMEM165 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.55443815G>A, NC_000004.11:g.56309982G>A, NM_004898.4:c.1774C>T, NM_004898.3:c.1774C>T, XM_005265787.3:c.1774C>T, XM_005265787.2:c.1774C>T, XM_005265787.1:c.1774C>T, XM_011534411.3:c.1774C>T, XM_011534411.2:c.1774C>T, XM_011534411.1:c.1774C>T, XM_011534410.3:c.1774C>T, XM_011534410.2:c.1774C>T, XM_011534410.1:c.1774C>T, NM_001267843.2:c.1774C>T, NM_001267843.1:c.1774C>T, XM_024454284.2:c.1774C>T, XM_024454284.1:c.1774C>T, XM_017008854.2:c.1774C>T, XM_017008854.1:c.1774C>T, XM_047416434.1:c.1774C>T, XM_047416433.1:c.1774C>T, XM_047416437.1:c.1774C>T, XM_047416436.1:c.1774C>T, XM_047416438.1:c.1774C>T, XM_047416431.1:c.1774C>T, XM_047416435.1:c.1774C>T, XM_047416439.1:c.1774C>T, XM_047416432.1:c.1774C>T, XM_047416440.1:c.1774C>T, NP_004889.1:p.Leu592Phe, XP_005265844.1:p.Leu592Phe, XP_011532713.1:p.Leu592Phe, XP_011532712.1:p.Leu592Phe, NP_001254772.1:p.Leu592Phe, XP_024310052.1:p.Leu592Phe, XP_016864343.1:p.Leu592Phe, XP_047272390.1:p.Leu592Phe, XP_047272389.1:p.Leu592Phe, XP_047272393.1:p.Leu592Phe, XP_047272392.1:p.Leu592Phe, XP_047272394.1:p.Leu592Phe, XP_047272387.1:p.Leu592Phe, XP_047272391.1:p.Leu592Phe, XP_047272395.1:p.Leu592Phe, XP_047272388.1:p.Leu592Phe, XP_047272396.1:p.Leu592Phe

    2.

    rs1490002469 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      4:55442486 (GRCh38)
      4:56308653 (GRCh37)
      Canonical SPDI:
      NC_000004.12:55442485:T:G
      Gene:
      CLOCK (Varview), TMEM165 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.55442486T>G, NC_000004.11:g.56308653T>G, NM_004898.4:c.2051A>C, NM_004898.3:c.2051A>C, XM_005265787.3:c.2051A>C, XM_005265787.2:c.2051A>C, XM_005265787.1:c.2051A>C, XM_011534411.3:c.2051A>C, XM_011534411.2:c.2051A>C, XM_011534411.1:c.2051A>C, XM_011534410.3:c.2051A>C, XM_011534410.2:c.2051A>C, XM_011534410.1:c.2051A>C, NM_001267843.2:c.2051A>C, NM_001267843.1:c.2051A>C, XM_024454284.2:c.2051A>C, XM_024454284.1:c.2051A>C, XM_017008854.2:c.2051A>C, XM_017008854.1:c.2051A>C, XM_047416434.1:c.2051A>C, XM_047416433.1:c.2051A>C, XM_047416437.1:c.2051A>C, XM_047416436.1:c.2051A>C, XM_047416438.1:c.2051A>C, XM_047416431.1:c.2051A>C, XM_047416435.1:c.2051A>C, XM_047416439.1:c.2051A>C, XM_047416432.1:c.2051A>C, XM_047416440.1:c.2051A>C, NP_004889.1:p.Gln684Pro, XP_005265844.1:p.Gln684Pro, XP_011532713.1:p.Gln684Pro, XP_011532712.1:p.Gln684Pro, NP_001254772.1:p.Gln684Pro, XP_024310052.1:p.Gln684Pro, XP_016864343.1:p.Gln684Pro, XP_047272390.1:p.Gln684Pro, XP_047272389.1:p.Gln684Pro, XP_047272393.1:p.Gln684Pro, XP_047272392.1:p.Gln684Pro, XP_047272394.1:p.Gln684Pro, XP_047272387.1:p.Gln684Pro, XP_047272391.1:p.Gln684Pro, XP_047272395.1:p.Gln684Pro, XP_047272388.1:p.Gln684Pro, XP_047272396.1:p.Gln684Pro

      3.

      rs1489628873 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:55476050 (GRCh38)
        4:56342217 (GRCh37)
        Canonical SPDI:
        NC_000004.12:55476049:G:A
        Gene:
        CLOCK (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1488292906 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          4:55443822 (GRCh38)
          4:56309989 (GRCh37)
          Canonical SPDI:
          NC_000004.12:55443821:G:C
          Gene:
          CLOCK (Varview), TMEM165 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.55443822G>C, NC_000004.11:g.56309989G>C, NM_004898.4:c.1767C>G, NM_004898.3:c.1767C>G, XM_005265787.3:c.1767C>G, XM_005265787.2:c.1767C>G, XM_005265787.1:c.1767C>G, XM_011534411.3:c.1767C>G, XM_011534411.2:c.1767C>G, XM_011534411.1:c.1767C>G, XM_011534410.3:c.1767C>G, XM_011534410.2:c.1767C>G, XM_011534410.1:c.1767C>G, NM_001267843.2:c.1767C>G, NM_001267843.1:c.1767C>G, XM_024454284.2:c.1767C>G, XM_024454284.1:c.1767C>G, XM_017008854.2:c.1767C>G, XM_017008854.1:c.1767C>G, XM_047416434.1:c.1767C>G, XM_047416433.1:c.1767C>G, XM_047416437.1:c.1767C>G, XM_047416436.1:c.1767C>G, XM_047416438.1:c.1767C>G, XM_047416431.1:c.1767C>G, XM_047416435.1:c.1767C>G, XM_047416439.1:c.1767C>G, XM_047416432.1:c.1767C>G, XM_047416440.1:c.1767C>G, NP_004889.1:p.Ile589Met, XP_005265844.1:p.Ile589Met, XP_011532713.1:p.Ile589Met, XP_011532712.1:p.Ile589Met, NP_001254772.1:p.Ile589Met, XP_024310052.1:p.Ile589Met, XP_016864343.1:p.Ile589Met, XP_047272390.1:p.Ile589Met, XP_047272389.1:p.Ile589Met, XP_047272393.1:p.Ile589Met, XP_047272392.1:p.Ile589Met, XP_047272394.1:p.Ile589Met, XP_047272387.1:p.Ile589Met, XP_047272391.1:p.Ile589Met, XP_047272395.1:p.Ile589Met, XP_047272388.1:p.Ile589Met, XP_047272396.1:p.Ile589Met

          5.

          rs1486854812 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            4:55450108 (GRCh38)
            4:56316275 (GRCh37)
            Canonical SPDI:
            NC_000004.12:55450107:G:T
            Gene:
            CLOCK (Varview), TMEM165 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000004.12:g.55450108G>T, NC_000004.11:g.56316275G>T, NM_004898.4:c.1331C>A, NM_004898.3:c.1331C>A, XM_005265787.3:c.1331C>A, XM_005265787.2:c.1331C>A, XM_005265787.1:c.1331C>A, XM_011534411.3:c.1331C>A, XM_011534411.2:c.1331C>A, XM_011534411.1:c.1331C>A, XM_011534410.3:c.1331C>A, XM_011534410.2:c.1331C>A, XM_011534410.1:c.1331C>A, NM_001267843.2:c.1331C>A, NM_001267843.1:c.1331C>A, XM_024454284.2:c.1331C>A, XM_024454284.1:c.1331C>A, XM_017008854.2:c.1331C>A, XM_017008854.1:c.1331C>A, XM_047416434.1:c.1331C>A, XM_047416433.1:c.1331C>A, XM_047416437.1:c.1331C>A, XM_047416436.1:c.1331C>A, XM_047416438.1:c.1331C>A, XM_047416431.1:c.1331C>A, XM_047416435.1:c.1331C>A, XM_047416439.1:c.1331C>A, XM_047416432.1:c.1331C>A, XM_047416440.1:c.1331C>A, NP_004889.1:p.Ala444Asp, XP_005265844.1:p.Ala444Asp, XP_011532713.1:p.Ala444Asp, XP_011532712.1:p.Ala444Asp, NP_001254772.1:p.Ala444Asp, XP_024310052.1:p.Ala444Asp, XP_016864343.1:p.Ala444Asp, XP_047272390.1:p.Ala444Asp, XP_047272389.1:p.Ala444Asp, XP_047272393.1:p.Ala444Asp, XP_047272392.1:p.Ala444Asp, XP_047272394.1:p.Ala444Asp, XP_047272387.1:p.Ala444Asp, XP_047272391.1:p.Ala444Asp, XP_047272395.1:p.Ala444Asp, XP_047272388.1:p.Ala444Asp, XP_047272396.1:p.Ala444Asp

            6.

            rs1484491702 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:55448782 (GRCh38)
              4:56314949 (GRCh37)
              Canonical SPDI:
              NC_000004.12:55448781:G:A
              Gene:
              CLOCK (Varview), TMEM165 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1483697702 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:55442570 (GRCh38)
                4:56308737 (GRCh37)
                Canonical SPDI:
                NC_000004.12:55442569:G:A
                Gene:
                CLOCK (Varview), TMEM165 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.55442570G>A, NC_000004.11:g.56308737G>A, NM_004898.4:c.1967C>T, NM_004898.3:c.1967C>T, XM_005265787.3:c.1967C>T, XM_005265787.2:c.1967C>T, XM_005265787.1:c.1967C>T, XM_011534411.3:c.1967C>T, XM_011534411.2:c.1967C>T, XM_011534411.1:c.1967C>T, XM_011534410.3:c.1967C>T, XM_011534410.2:c.1967C>T, XM_011534410.1:c.1967C>T, NM_001267843.2:c.1967C>T, NM_001267843.1:c.1967C>T, XM_024454284.2:c.1967C>T, XM_024454284.1:c.1967C>T, XM_017008854.2:c.1967C>T, XM_017008854.1:c.1967C>T, XM_047416434.1:c.1967C>T, XM_047416433.1:c.1967C>T, XM_047416437.1:c.1967C>T, XM_047416436.1:c.1967C>T, XM_047416438.1:c.1967C>T, XM_047416431.1:c.1967C>T, XM_047416435.1:c.1967C>T, XM_047416439.1:c.1967C>T, XM_047416432.1:c.1967C>T, XM_047416440.1:c.1967C>T, NP_004889.1:p.Thr656Ile, XP_005265844.1:p.Thr656Ile, XP_011532713.1:p.Thr656Ile, XP_011532712.1:p.Thr656Ile, NP_001254772.1:p.Thr656Ile, XP_024310052.1:p.Thr656Ile, XP_016864343.1:p.Thr656Ile, XP_047272390.1:p.Thr656Ile, XP_047272389.1:p.Thr656Ile, XP_047272393.1:p.Thr656Ile, XP_047272392.1:p.Thr656Ile, XP_047272394.1:p.Thr656Ile, XP_047272387.1:p.Thr656Ile, XP_047272391.1:p.Thr656Ile, XP_047272395.1:p.Thr656Ile, XP_047272388.1:p.Thr656Ile, XP_047272396.1:p.Thr656Ile

                8.

                rs1483396942 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  4:55458913 (GRCh38)
                  4:56325080 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:55458912:T:C
                  Gene:
                  CLOCK (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000026/7 (TOPMED)
                  C=0.000043/6 (GnomAD)
                  HGVS:

                  9.

                  rs1481787301 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    4:55463722 (GRCh38)
                    4:56329889 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:55463721:C:A
                    Gene:
                    CLOCK (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_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:

                    10.

                    rs1481580532 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      4:55458935 (GRCh38)
                      4:56325102 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:55458934:C:T
                      Gene:
                      CLOCK (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000004.12:g.55458935C>T, NC_000004.11:g.56325102C>T, NM_004898.4:c.749G>A, NM_004898.3:c.749G>A, XM_005265787.3:c.749G>A, XM_005265787.2:c.749G>A, XM_005265787.1:c.749G>A, XM_011534411.3:c.749G>A, XM_011534411.2:c.749G>A, XM_011534411.1:c.749G>A, XM_011534410.3:c.749G>A, XM_011534410.2:c.749G>A, XM_011534410.1:c.749G>A, NM_001267843.2:c.749G>A, NM_001267843.1:c.749G>A, XM_024454284.2:c.749G>A, XM_024454284.1:c.749G>A, XM_017008854.2:c.749G>A, XM_017008854.1:c.749G>A, XM_047416434.1:c.749G>A, XM_047416433.1:c.749G>A, XM_047416437.1:c.749G>A, XM_047416436.1:c.749G>A, XM_047416438.1:c.749G>A, XM_047416431.1:c.749G>A, XM_047416435.1:c.749G>A, XM_047416439.1:c.749G>A, XM_047416432.1:c.749G>A, XM_047416440.1:c.749G>A, NP_004889.1:p.Cys250Tyr, XP_005265844.1:p.Cys250Tyr, XP_011532713.1:p.Cys250Tyr, XP_011532712.1:p.Cys250Tyr, NP_001254772.1:p.Cys250Tyr, XP_024310052.1:p.Cys250Tyr, XP_016864343.1:p.Cys250Tyr, XP_047272390.1:p.Cys250Tyr, XP_047272389.1:p.Cys250Tyr, XP_047272393.1:p.Cys250Tyr, XP_047272392.1:p.Cys250Tyr, XP_047272394.1:p.Cys250Tyr, XP_047272387.1:p.Cys250Tyr, XP_047272391.1:p.Cys250Tyr, XP_047272395.1:p.Cys250Tyr, XP_047272388.1:p.Cys250Tyr, XP_047272396.1:p.Cys250Tyr

                      11.

                      rs1480003388 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        4:55458973 (GRCh38)
                        4:56325140 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:55458972:T:C
                        Gene:
                        CLOCK (Varview)
                        Functional Consequence:
                        missense_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_000004.12:g.55458973T>C, NC_000004.11:g.56325140T>C, NM_004898.4:c.711A>G, NM_004898.3:c.711A>G, XM_005265787.3:c.711A>G, XM_005265787.2:c.711A>G, XM_005265787.1:c.711A>G, XM_011534411.3:c.711A>G, XM_011534411.2:c.711A>G, XM_011534411.1:c.711A>G, XM_011534410.3:c.711A>G, XM_011534410.2:c.711A>G, XM_011534410.1:c.711A>G, NM_001267843.2:c.711A>G, NM_001267843.1:c.711A>G, XM_024454284.2:c.711A>G, XM_024454284.1:c.711A>G, XM_017008854.2:c.711A>G, XM_017008854.1:c.711A>G, XM_047416434.1:c.711A>G, XM_047416433.1:c.711A>G, XM_047416437.1:c.711A>G, XM_047416436.1:c.711A>G, XM_047416438.1:c.711A>G, XM_047416431.1:c.711A>G, XM_047416435.1:c.711A>G, XM_047416439.1:c.711A>G, XM_047416432.1:c.711A>G, XM_047416440.1:c.711A>G, NP_004889.1:p.Ile237Met, XP_005265844.1:p.Ile237Met, XP_011532713.1:p.Ile237Met, XP_011532712.1:p.Ile237Met, NP_001254772.1:p.Ile237Met, XP_024310052.1:p.Ile237Met, XP_016864343.1:p.Ile237Met, XP_047272390.1:p.Ile237Met, XP_047272389.1:p.Ile237Met, XP_047272393.1:p.Ile237Met, XP_047272392.1:p.Ile237Met, XP_047272394.1:p.Ile237Met, XP_047272387.1:p.Ile237Met, XP_047272391.1:p.Ile237Met, XP_047272395.1:p.Ile237Met, XP_047272388.1:p.Ile237Met, XP_047272396.1:p.Ile237Met

                        12.

                        rs1479782437 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:55479668 (GRCh38)
                          4:56345835 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:55479667:C:T
                          Gene:
                          CLOCK (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000085/3 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000019/5 (TOPMED)
                          HGVS:
                          NC_000004.12:g.55479668C>T, NC_000004.11:g.56345835C>T, NM_004898.4:c.79G>A, NM_004898.3:c.79G>A, XM_005265787.3:c.79G>A, XM_005265787.2:c.79G>A, XM_005265787.1:c.79G>A, XM_011534411.3:c.79G>A, XM_011534411.2:c.79G>A, XM_011534411.1:c.79G>A, XM_011534410.3:c.79G>A, XM_011534410.2:c.79G>A, XM_011534410.1:c.79G>A, NM_001267843.2:c.79G>A, NM_001267843.1:c.79G>A, XM_024454284.2:c.79G>A, XM_024454284.1:c.79G>A, XM_017008854.2:c.79G>A, XM_017008854.1:c.79G>A, XM_047416434.1:c.79G>A, XM_047416433.1:c.79G>A, XM_047416437.1:c.79G>A, XM_047416436.1:c.79G>A, XM_047416438.1:c.79G>A, XM_047416431.1:c.79G>A, XM_047416435.1:c.79G>A, XM_047416439.1:c.79G>A, XM_047416432.1:c.79G>A, XM_047416440.1:c.79G>A, NP_004889.1:p.Glu27Lys, XP_005265844.1:p.Glu27Lys, XP_011532713.1:p.Glu27Lys, XP_011532712.1:p.Glu27Lys, NP_001254772.1:p.Glu27Lys, XP_024310052.1:p.Glu27Lys, XP_016864343.1:p.Glu27Lys, XP_047272390.1:p.Glu27Lys, XP_047272389.1:p.Glu27Lys, XP_047272393.1:p.Glu27Lys, XP_047272392.1:p.Glu27Lys, XP_047272394.1:p.Glu27Lys, XP_047272387.1:p.Glu27Lys, XP_047272391.1:p.Glu27Lys, XP_047272395.1:p.Glu27Lys, XP_047272388.1:p.Glu27Lys, XP_047272396.1:p.Glu27Lys

                          13.

                          rs1477935391 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            4:55443762 (GRCh38)
                            4:56309929 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:55443761:A:T
                            Gene:
                            CLOCK (Varview), TMEM165 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.55443762A>T, NC_000004.11:g.56309929A>T, NM_004898.4:c.1827T>A, NM_004898.3:c.1827T>A, XM_005265787.3:c.1827T>A, XM_005265787.2:c.1827T>A, XM_005265787.1:c.1827T>A, XM_011534411.3:c.1827T>A, XM_011534411.2:c.1827T>A, XM_011534411.1:c.1827T>A, XM_011534410.3:c.1827T>A, XM_011534410.2:c.1827T>A, XM_011534410.1:c.1827T>A, NM_001267843.2:c.1827T>A, NM_001267843.1:c.1827T>A, XM_024454284.2:c.1827T>A, XM_024454284.1:c.1827T>A, XM_017008854.2:c.1827T>A, XM_017008854.1:c.1827T>A, XM_047416434.1:c.1827T>A, XM_047416433.1:c.1827T>A, XM_047416437.1:c.1827T>A, XM_047416436.1:c.1827T>A, XM_047416438.1:c.1827T>A, XM_047416431.1:c.1827T>A, XM_047416435.1:c.1827T>A, XM_047416439.1:c.1827T>A, XM_047416432.1:c.1827T>A, XM_047416440.1:c.1827T>A, NP_004889.1:p.Ser609Arg, XP_005265844.1:p.Ser609Arg, XP_011532713.1:p.Ser609Arg, XP_011532712.1:p.Ser609Arg, NP_001254772.1:p.Ser609Arg, XP_024310052.1:p.Ser609Arg, XP_016864343.1:p.Ser609Arg, XP_047272390.1:p.Ser609Arg, XP_047272389.1:p.Ser609Arg, XP_047272393.1:p.Ser609Arg, XP_047272392.1:p.Ser609Arg, XP_047272394.1:p.Ser609Arg, XP_047272387.1:p.Ser609Arg, XP_047272391.1:p.Ser609Arg, XP_047272395.1:p.Ser609Arg, XP_047272388.1:p.Ser609Arg, XP_047272396.1:p.Ser609Arg

                            14.

                            rs1477435735 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              4:55442576 (GRCh38)
                              4:56308743 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:55442575:T:G
                              Gene:
                              CLOCK (Varview), TMEM165 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000004.12:g.55442576T>G, NC_000004.11:g.56308743T>G, NM_004898.4:c.1961A>C, NM_004898.3:c.1961A>C, XM_005265787.3:c.1961A>C, XM_005265787.2:c.1961A>C, XM_005265787.1:c.1961A>C, XM_011534411.3:c.1961A>C, XM_011534411.2:c.1961A>C, XM_011534411.1:c.1961A>C, XM_011534410.3:c.1961A>C, XM_011534410.2:c.1961A>C, XM_011534410.1:c.1961A>C, NM_001267843.2:c.1961A>C, NM_001267843.1:c.1961A>C, XM_024454284.2:c.1961A>C, XM_024454284.1:c.1961A>C, XM_017008854.2:c.1961A>C, XM_017008854.1:c.1961A>C, XM_047416434.1:c.1961A>C, XM_047416433.1:c.1961A>C, XM_047416437.1:c.1961A>C, XM_047416436.1:c.1961A>C, XM_047416438.1:c.1961A>C, XM_047416431.1:c.1961A>C, XM_047416435.1:c.1961A>C, XM_047416439.1:c.1961A>C, XM_047416432.1:c.1961A>C, XM_047416440.1:c.1961A>C, NP_004889.1:p.Gln654Pro, XP_005265844.1:p.Gln654Pro, XP_011532713.1:p.Gln654Pro, XP_011532712.1:p.Gln654Pro, NP_001254772.1:p.Gln654Pro, XP_024310052.1:p.Gln654Pro, XP_016864343.1:p.Gln654Pro, XP_047272390.1:p.Gln654Pro, XP_047272389.1:p.Gln654Pro, XP_047272393.1:p.Gln654Pro, XP_047272392.1:p.Gln654Pro, XP_047272394.1:p.Gln654Pro, XP_047272387.1:p.Gln654Pro, XP_047272391.1:p.Gln654Pro, XP_047272395.1:p.Gln654Pro, XP_047272388.1:p.Gln654Pro, XP_047272396.1:p.Gln654Pro

                              15.

                              rs1475562022 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                4:55449402 (GRCh38)
                                4:56315569 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:55449401:A:G,NC_000004.12:55449401:A:T
                                Gene:
                                CLOCK (Varview), TMEM165 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000004.12:g.55449402A>G, NC_000004.12:g.55449402A>T, NC_000004.11:g.56315569A>G, NC_000004.11:g.56315569A>T, NM_004898.4:c.1443T>C, NM_004898.4:c.1443T>A, NM_004898.3:c.1443T>C, NM_004898.3:c.1443T>A, XM_005265787.3:c.1443T>C, XM_005265787.3:c.1443T>A, XM_005265787.2:c.1443T>C, XM_005265787.2:c.1443T>A, XM_005265787.1:c.1443T>C, XM_005265787.1:c.1443T>A, XM_011534411.3:c.1443T>C, XM_011534411.3:c.1443T>A, XM_011534411.2:c.1443T>C, XM_011534411.2:c.1443T>A, XM_011534411.1:c.1443T>C, XM_011534411.1:c.1443T>A, XM_011534410.3:c.1443T>C, XM_011534410.3:c.1443T>A, XM_011534410.2:c.1443T>C, XM_011534410.2:c.1443T>A, XM_011534410.1:c.1443T>C, XM_011534410.1:c.1443T>A, NM_001267843.2:c.1443T>C, NM_001267843.2:c.1443T>A, NM_001267843.1:c.1443T>C, NM_001267843.1:c.1443T>A, XM_024454284.2:c.1443T>C, XM_024454284.2:c.1443T>A, XM_024454284.1:c.1443T>C, XM_024454284.1:c.1443T>A, XM_017008854.2:c.1443T>C, XM_017008854.2:c.1443T>A, XM_017008854.1:c.1443T>C, XM_017008854.1:c.1443T>A, XM_047416434.1:c.1443T>C, XM_047416434.1:c.1443T>A, XM_047416433.1:c.1443T>C, XM_047416433.1:c.1443T>A, XM_047416437.1:c.1443T>C, XM_047416437.1:c.1443T>A, XM_047416436.1:c.1443T>C, XM_047416436.1:c.1443T>A, XM_047416438.1:c.1443T>C, XM_047416438.1:c.1443T>A, XM_047416431.1:c.1443T>C, XM_047416431.1:c.1443T>A, XM_047416435.1:c.1443T>C, XM_047416435.1:c.1443T>A, XM_047416439.1:c.1443T>C, XM_047416439.1:c.1443T>A, XM_047416432.1:c.1443T>C, XM_047416432.1:c.1443T>A, XM_047416440.1:c.1443T>C, XM_047416440.1:c.1443T>A, NP_004889.1:p.Ser481Arg, XP_005265844.1:p.Ser481Arg, XP_011532713.1:p.Ser481Arg, XP_011532712.1:p.Ser481Arg, NP_001254772.1:p.Ser481Arg, XP_024310052.1:p.Ser481Arg, XP_016864343.1:p.Ser481Arg, XP_047272390.1:p.Ser481Arg, XP_047272389.1:p.Ser481Arg, XP_047272393.1:p.Ser481Arg, XP_047272392.1:p.Ser481Arg, XP_047272394.1:p.Ser481Arg, XP_047272387.1:p.Ser481Arg, XP_047272391.1:p.Ser481Arg, XP_047272395.1:p.Ser481Arg, XP_047272388.1:p.Ser481Arg, XP_047272396.1:p.Ser481Arg

                                16.

                                rs1474602727 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:55449494 (GRCh38)
                                  4:56315661 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:55449493:T:C
                                  Gene:
                                  CLOCK (Varview), TMEM165 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000047/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000004.12:g.55449494T>C, NC_000004.11:g.56315661T>C, NM_004898.4:c.1351A>G, NM_004898.3:c.1351A>G, XM_005265787.3:c.1351A>G, XM_005265787.2:c.1351A>G, XM_005265787.1:c.1351A>G, XM_011534411.3:c.1351A>G, XM_011534411.2:c.1351A>G, XM_011534411.1:c.1351A>G, XM_011534410.3:c.1351A>G, XM_011534410.2:c.1351A>G, XM_011534410.1:c.1351A>G, NM_001267843.2:c.1351A>G, NM_001267843.1:c.1351A>G, XM_024454284.2:c.1351A>G, XM_024454284.1:c.1351A>G, XM_017008854.2:c.1351A>G, XM_017008854.1:c.1351A>G, XM_047416434.1:c.1351A>G, XM_047416433.1:c.1351A>G, XM_047416437.1:c.1351A>G, XM_047416436.1:c.1351A>G, XM_047416438.1:c.1351A>G, XM_047416431.1:c.1351A>G, XM_047416435.1:c.1351A>G, XM_047416439.1:c.1351A>G, XM_047416432.1:c.1351A>G, XM_047416440.1:c.1351A>G, NP_004889.1:p.Thr451Ala, XP_005265844.1:p.Thr451Ala, XP_011532713.1:p.Thr451Ala, XP_011532712.1:p.Thr451Ala, NP_001254772.1:p.Thr451Ala, XP_024310052.1:p.Thr451Ala, XP_016864343.1:p.Thr451Ala, XP_047272390.1:p.Thr451Ala, XP_047272389.1:p.Thr451Ala, XP_047272393.1:p.Thr451Ala, XP_047272392.1:p.Thr451Ala, XP_047272394.1:p.Thr451Ala, XP_047272387.1:p.Thr451Ala, XP_047272391.1:p.Thr451Ala, XP_047272395.1:p.Thr451Ala, XP_047272388.1:p.Thr451Ala, XP_047272396.1:p.Thr451Ala

                                  17.

                                  rs1474487910 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:55482754 (GRCh38)
                                    4:56348921 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:55482753:C:T
                                    Gene:
                                    CLOCK (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000004.12:g.55482754C>T, NC_000004.11:g.56348921C>T, NM_004898.4:c.32G>A, NM_004898.3:c.32G>A, XM_005265787.3:c.32G>A, XM_005265787.2:c.32G>A, XM_005265787.1:c.32G>A, XM_011534411.3:c.32G>A, XM_011534411.2:c.32G>A, XM_011534411.1:c.32G>A, XM_011534410.3:c.32G>A, XM_011534410.2:c.32G>A, XM_011534410.1:c.32G>A, NM_001267843.2:c.32G>A, NM_001267843.1:c.32G>A, XM_024454284.2:c.32G>A, XM_024454284.1:c.32G>A, XM_017008854.2:c.32G>A, XM_017008854.1:c.32G>A, XM_047416434.1:c.32G>A, XM_047416433.1:c.32G>A, XM_047416437.1:c.32G>A, XM_047416436.1:c.32G>A, XM_047416438.1:c.32G>A, XM_047416431.1:c.32G>A, XM_047416435.1:c.32G>A, XM_047416439.1:c.32G>A, XM_047416432.1:c.32G>A, XM_047416440.1:c.32G>A, NP_004889.1:p.Ser11Asn, XP_005265844.1:p.Ser11Asn, XP_011532713.1:p.Ser11Asn, XP_011532712.1:p.Ser11Asn, NP_001254772.1:p.Ser11Asn, XP_024310052.1:p.Ser11Asn, XP_016864343.1:p.Ser11Asn, XP_047272390.1:p.Ser11Asn, XP_047272389.1:p.Ser11Asn, XP_047272393.1:p.Ser11Asn, XP_047272392.1:p.Ser11Asn, XP_047272394.1:p.Ser11Asn, XP_047272387.1:p.Ser11Asn, XP_047272391.1:p.Ser11Asn, XP_047272395.1:p.Ser11Asn, XP_047272388.1:p.Ser11Asn, XP_047272396.1:p.Ser11Asn

                                    18.

                                    rs1473598056 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      4:55443835 (GRCh38)
                                      4:56310002 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:55443834:T:C
                                      Gene:
                                      CLOCK (Varview), TMEM165 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.55443835T>C, NC_000004.11:g.56310002T>C, NM_004898.4:c.1754A>G, NM_004898.3:c.1754A>G, XM_005265787.3:c.1754A>G, XM_005265787.2:c.1754A>G, XM_005265787.1:c.1754A>G, XM_011534411.3:c.1754A>G, XM_011534411.2:c.1754A>G, XM_011534411.1:c.1754A>G, XM_011534410.3:c.1754A>G, XM_011534410.2:c.1754A>G, XM_011534410.1:c.1754A>G, NM_001267843.2:c.1754A>G, NM_001267843.1:c.1754A>G, XM_024454284.2:c.1754A>G, XM_024454284.1:c.1754A>G, XM_017008854.2:c.1754A>G, XM_017008854.1:c.1754A>G, XM_047416434.1:c.1754A>G, XM_047416433.1:c.1754A>G, XM_047416437.1:c.1754A>G, XM_047416436.1:c.1754A>G, XM_047416438.1:c.1754A>G, XM_047416431.1:c.1754A>G, XM_047416435.1:c.1754A>G, XM_047416439.1:c.1754A>G, XM_047416432.1:c.1754A>G, XM_047416440.1:c.1754A>G, NP_004889.1:p.Asn585Ser, XP_005265844.1:p.Asn585Ser, XP_011532713.1:p.Asn585Ser, XP_011532712.1:p.Asn585Ser, NP_001254772.1:p.Asn585Ser, XP_024310052.1:p.Asn585Ser, XP_016864343.1:p.Asn585Ser, XP_047272390.1:p.Asn585Ser, XP_047272389.1:p.Asn585Ser, XP_047272393.1:p.Asn585Ser, XP_047272392.1:p.Asn585Ser, XP_047272394.1:p.Asn585Ser, XP_047272387.1:p.Asn585Ser, XP_047272391.1:p.Asn585Ser, XP_047272395.1:p.Asn585Ser, XP_047272388.1:p.Asn585Ser, XP_047272396.1:p.Asn585Ser

                                      19.

                                      rs1472525407 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:55470767 (GRCh38)
                                        4:56336934 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:55470766:T:C
                                        Gene:
                                        CLOCK (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.55470767T>C, NC_000004.11:g.56336934T>C, NM_004898.4:c.388A>G, NM_004898.3:c.388A>G, XM_005265787.3:c.388A>G, XM_005265787.2:c.388A>G, XM_005265787.1:c.388A>G, XM_011534411.3:c.388A>G, XM_011534411.2:c.388A>G, XM_011534411.1:c.388A>G, XM_011534410.3:c.388A>G, XM_011534410.2:c.388A>G, XM_011534410.1:c.388A>G, NM_001267843.2:c.388A>G, NM_001267843.1:c.388A>G, XM_024454284.2:c.388A>G, XM_024454284.1:c.388A>G, XM_017008854.2:c.388A>G, XM_017008854.1:c.388A>G, XM_047416434.1:c.388A>G, XM_047416433.1:c.388A>G, XM_047416437.1:c.388A>G, XM_047416436.1:c.388A>G, XM_047416438.1:c.388A>G, XM_047416431.1:c.388A>G, XM_047416435.1:c.388A>G, XM_047416439.1:c.388A>G, XM_047416432.1:c.388A>G, XM_047416440.1:c.388A>G, NP_004889.1:p.Ser130Gly, XP_005265844.1:p.Ser130Gly, XP_011532713.1:p.Ser130Gly, XP_011532712.1:p.Ser130Gly, NP_001254772.1:p.Ser130Gly, XP_024310052.1:p.Ser130Gly, XP_016864343.1:p.Ser130Gly, XP_047272390.1:p.Ser130Gly, XP_047272389.1:p.Ser130Gly, XP_047272393.1:p.Ser130Gly, XP_047272392.1:p.Ser130Gly, XP_047272394.1:p.Ser130Gly, XP_047272387.1:p.Ser130Gly, XP_047272391.1:p.Ser130Gly, XP_047272395.1:p.Ser130Gly, XP_047272388.1:p.Ser130Gly, XP_047272396.1:p.Ser130Gly

                                        20.

                                        rs1472492049 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:55453061 (GRCh38)
                                          4:56319228 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:55453060:G:A
                                          Gene:
                                          CLOCK (Varview), TMEM165 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000084/1 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.55453061G>A, NC_000004.11:g.56319228G>A, NM_004898.4:c.1199C>T, NM_004898.3:c.1199C>T, XM_011534394.4:c.*755G>A, XM_011534394.3:c.*755G>A, XM_011534394.2:c.*755G>A, XM_005265787.3:c.1199C>T, XM_005265787.2:c.1199C>T, XM_005265787.1:c.1199C>T, XM_011534411.3:c.1199C>T, XM_011534411.2:c.1199C>T, XM_011534411.1:c.1199C>T, XM_011534410.3:c.1199C>T, XM_011534410.2:c.1199C>T, XM_011534410.1:c.1199C>T, NM_001267843.2:c.1199C>T, NM_001267843.1:c.1199C>T, XM_024454284.2:c.1199C>T, XM_024454284.1:c.1199C>T, XM_017008854.2:c.1199C>T, XM_017008854.1:c.1199C>T, XM_047416434.1:c.1199C>T, XM_047416433.1:c.1199C>T, XM_047416437.1:c.1199C>T, XM_047416436.1:c.1199C>T, XM_047416438.1:c.1199C>T, XM_047416431.1:c.1199C>T, XM_047416435.1:c.1199C>T, XM_047416439.1:c.1199C>T, XM_047416432.1:c.1199C>T, XM_047416440.1:c.1199C>T, NP_004889.1:p.Ala400Val, XP_005265844.1:p.Ala400Val, XP_011532713.1:p.Ala400Val, XP_011532712.1:p.Ala400Val, NP_001254772.1:p.Ala400Val, XP_024310052.1:p.Ala400Val, XP_016864343.1:p.Ala400Val, XP_047272390.1:p.Ala400Val, XP_047272389.1:p.Ala400Val, XP_047272393.1:p.Ala400Val, XP_047272392.1:p.Ala400Val, XP_047272394.1:p.Ala400Val, XP_047272387.1:p.Ala400Val, XP_047272391.1:p.Ala400Val, XP_047272395.1:p.Ala400Val, XP_047272388.1:p.Ala400Val, XP_047272396.1:p.Ala400Val

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