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Items: 1 to 20 of 330

1.

rs1488190681 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    1:161232883 (GRCh38)
    1:161202673 (GRCh37)
    Canonical SPDI:
    NC_000001.11:161232882:C:G,NC_000001.11:161232882:C:T
    Gene:
    NR1I3 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.161232883C>G, NC_000001.11:g.161232883C>T, NC_000001.10:g.161202673C>G, NC_000001.10:g.161202673C>T, NG_029113.1:g.10328G>C, NG_029113.1:g.10328G>A, NM_005122.5:c.472G>C, NM_005122.5:c.472G>A, NM_005122.4:c.472G>C, NM_005122.4:c.472G>A, NM_001077482.3:c.472G>C, NM_001077482.3:c.472G>A, NM_001077482.2:c.472G>C, NM_001077482.2:c.472G>A, NM_001077480.3:c.472G>C, NM_001077480.3:c.472G>A, NM_001077480.2:c.472G>C, NM_001077480.2:c.472G>A, NM_001077481.3:c.472G>C, NM_001077481.3:c.472G>A, NM_001077481.2:c.472G>C, NM_001077481.2:c.472G>A, NM_001077471.3:c.472G>C, NM_001077471.3:c.472G>A, NM_001077471.2:c.472G>C, NM_001077471.2:c.472G>A, NM_001077472.3:c.385G>C, NM_001077472.3:c.385G>A, NM_001077472.2:c.385G>C, NM_001077472.2:c.385G>A, NM_001077469.3:c.472G>C, NM_001077469.3:c.472G>A, NM_001077469.2:c.472G>C, NM_001077469.2:c.472G>A, NM_001077479.3:c.385G>C, NM_001077479.3:c.385G>A, NM_001077479.2:c.385G>C, NM_001077479.2:c.385G>A, NM_001077478.3:c.472G>C, NM_001077478.3:c.472G>A, NM_001077478.2:c.472G>C, NM_001077478.2:c.472G>A, NM_001077470.3:c.385G>C, NM_001077470.3:c.385G>A, NM_001077470.2:c.385G>C, NM_001077470.2:c.385G>A, NM_001077473.3:c.385G>C, NM_001077473.3:c.385G>A, NM_001077473.2:c.385G>C, NM_001077473.2:c.385G>A, NM_001077474.3:c.472G>C, NM_001077474.3:c.472G>A, NM_001077474.2:c.472G>C, NM_001077474.2:c.472G>A, NM_001077476.3:c.385G>C, NM_001077476.3:c.385G>A, NM_001077476.2:c.385G>C, NM_001077476.2:c.385G>A, NM_001077477.3:c.385G>C, NM_001077477.3:c.385G>A, NM_001077477.2:c.385G>C, NM_001077477.2:c.385G>A, NM_001077475.3:c.385G>C, NM_001077475.3:c.385G>A, NM_001077475.2:c.385G>C, NM_001077475.2:c.385G>A, XM_005245697.5:c.472G>C, XM_005245697.5:c.472G>A, XM_005245697.4:c.472G>C, XM_005245697.4:c.472G>A, XM_005245697.3:c.472G>C, XM_005245697.3:c.472G>A, XM_005245697.2:c.472G>C, XM_005245697.2:c.472G>A, XM_005245697.1:c.472G>C, XM_005245697.1:c.472G>A, XM_005245693.5:c.385G>C, XM_005245693.5:c.385G>A, XM_005245693.4:c.688G>C, XM_005245693.4:c.688G>A, XM_005245693.3:c.688G>C, XM_005245693.3:c.688G>A, XM_005245693.2:c.688G>C, XM_005245693.2:c.688G>A, XM_005245693.1:c.688G>C, XM_005245693.1:c.688G>A, NP_005113.1:p.Val158Leu, NP_005113.1:p.Val158Ile, NP_001070950.1:p.Val158Leu, NP_001070950.1:p.Val158Ile, NP_001070948.1:p.Val158Leu, NP_001070948.1:p.Val158Ile, NP_001070949.1:p.Val158Leu, NP_001070949.1:p.Val158Ile, NP_001070939.1:p.Val158Leu, NP_001070939.1:p.Val158Ile, NP_001070940.1:p.Val129Leu, NP_001070940.1:p.Val129Ile, NP_001070937.1:p.Val158Leu, NP_001070937.1:p.Val158Ile, NP_001070947.1:p.Val129Leu, NP_001070947.1:p.Val129Ile, NP_001070946.1:p.Val158Leu, NP_001070946.1:p.Val158Ile, NP_001070938.1:p.Val129Leu, NP_001070938.1:p.Val129Ile, NP_001070941.1:p.Val129Leu, NP_001070941.1:p.Val129Ile, NP_001070942.1:p.Val158Leu, NP_001070942.1:p.Val158Ile, NP_001070944.1:p.Val129Leu, NP_001070944.1:p.Val129Ile, NP_001070945.1:p.Val129Leu, NP_001070945.1:p.Val129Ile, NP_001070943.1:p.Val129Leu, NP_001070943.1:p.Val129Ile, XP_005245754.1:p.Val158Leu, XP_005245754.1:p.Val158Ile, XP_005245750.2:p.Val129Leu, XP_005245750.2:p.Val129Ile

    2.

    rs1485824077 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:161232890 (GRCh38)
      1:161202680 (GRCh37)
      Canonical SPDI:
      NC_000001.11:161232889:C:T
      Gene:
      NR1I3 (Varview)
      Functional Consequence:
      synonymous_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_000001.11:g.161232890C>T, NC_000001.10:g.161202680C>T, NG_029113.1:g.10321G>A, NM_005122.5:c.465G>A, NM_005122.4:c.465G>A, NM_001077482.3:c.465G>A, NM_001077482.2:c.465G>A, NM_001077480.3:c.465G>A, NM_001077480.2:c.465G>A, NM_001077481.3:c.465G>A, NM_001077481.2:c.465G>A, NM_001077471.3:c.465G>A, NM_001077471.2:c.465G>A, NM_001077472.3:c.378G>A, NM_001077472.2:c.378G>A, NM_001077469.3:c.465G>A, NM_001077469.2:c.465G>A, NM_001077479.3:c.378G>A, NM_001077479.2:c.378G>A, NM_001077478.3:c.465G>A, NM_001077478.2:c.465G>A, NM_001077470.3:c.378G>A, NM_001077470.2:c.378G>A, NM_001077473.3:c.378G>A, NM_001077473.2:c.378G>A, NM_001077474.3:c.465G>A, NM_001077474.2:c.465G>A, NM_001077476.3:c.378G>A, NM_001077476.2:c.378G>A, NM_001077477.3:c.378G>A, NM_001077477.2:c.378G>A, NM_001077475.3:c.378G>A, NM_001077475.2:c.378G>A, XM_005245697.5:c.465G>A, XM_005245697.4:c.465G>A, XM_005245697.3:c.465G>A, XM_005245697.2:c.465G>A, XM_005245697.1:c.465G>A, XM_005245693.5:c.378G>A, XM_005245693.4:c.681G>A, XM_005245693.3:c.681G>A, XM_005245693.2:c.681G>A, XM_005245693.1:c.681G>A

      3.

      rs1485147002 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:161231339 (GRCh38)
        1:161201129 (GRCh37)
        Canonical SPDI:
        NC_000001.11:161231338:A:G
        Gene:
        NR1I3 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000015/4 (TOPMED)
        G=0.000021/3 (GnomAD)
        HGVS:
        NC_000001.11:g.161231339A>G, NC_000001.10:g.161201129A>G, NG_029113.1:g.11872T>C, NM_005122.5:c.684T>C, NM_005122.4:c.684T>C, NM_001077482.3:c.684T>C, NM_001077482.2:c.684T>C, NM_001077480.3:c.684T>C, NM_001077480.2:c.684T>C, NM_001077481.3:c.684T>C, NM_001077481.2:c.684T>C, NM_001077471.3:c.684T>C, NM_001077471.2:c.684T>C, NM_001077472.3:c.597T>C, NM_001077472.2:c.597T>C, NM_001077469.3:c.684T>C, NM_001077469.2:c.684T>C, NM_001077479.3:c.597T>C, NM_001077479.2:c.597T>C, NM_001077478.3:c.684T>C, NM_001077478.2:c.684T>C, NM_001077470.3:c.597T>C, NM_001077470.2:c.597T>C, NM_001077473.3:c.597T>C, NM_001077473.2:c.597T>C, NM_001077474.3:c.684T>C, NM_001077474.2:c.684T>C, NM_001077476.3:c.597T>C, NM_001077476.2:c.597T>C, NM_001077477.3:c.597T>C, NM_001077477.2:c.597T>C, NM_001077475.3:c.597T>C, NM_001077475.2:c.597T>C, XM_005245697.5:c.684T>C, XM_005245697.4:c.684T>C, XM_005245697.3:c.684T>C, XM_005245697.2:c.684T>C, XM_005245697.1:c.684T>C, XM_005245693.5:c.597T>C, XM_005245693.4:c.900T>C, XM_005245693.3:c.900T>C, XM_005245693.2:c.900T>C, XM_005245693.1:c.900T>C

        4.

        rs1482677903 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          1:161235860 (GRCh38)
          1:161205650 (GRCh37)
          Canonical SPDI:
          NC_000001.11:161235859:G:T
          Gene:
          NR1I3 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.161235860G>T, NC_000001.10:g.161205650G>T, NG_029113.1:g.7351C>A, NM_005122.5:c.225C>A, NM_005122.4:c.225C>A, NM_001077482.3:c.225C>A, NM_001077482.2:c.225C>A, NM_001077480.3:c.225C>A, NM_001077480.2:c.225C>A, NM_001077481.3:c.225C>A, NM_001077481.2:c.225C>A, NM_001077471.3:c.225C>A, NM_001077471.2:c.225C>A, NM_001077472.3:c.138C>A, NM_001077472.2:c.138C>A, NM_001077469.3:c.225C>A, NM_001077469.2:c.225C>A, NM_001077479.3:c.138C>A, NM_001077479.2:c.138C>A, NM_001077478.3:c.225C>A, NM_001077478.2:c.225C>A, NM_001077470.3:c.138C>A, NM_001077470.2:c.138C>A, NM_001077473.3:c.138C>A, NM_001077473.2:c.138C>A, NM_001077474.3:c.225C>A, NM_001077474.2:c.225C>A, NM_001077476.3:c.138C>A, NM_001077476.2:c.138C>A, NM_001077477.3:c.138C>A, NM_001077477.2:c.138C>A, NM_001077475.3:c.138C>A, NM_001077475.2:c.138C>A, XM_005245697.5:c.225C>A, XM_005245697.4:c.225C>A, XM_005245697.3:c.225C>A, XM_005245697.2:c.225C>A, XM_005245697.1:c.225C>A, XM_005245693.5:c.138C>A, XM_005245693.4:c.441C>A, XM_005245693.3:c.441C>A, XM_005245693.2:c.441C>A, XM_005245693.1:c.441C>A

          5.

          rs1482010456 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            1:161233330 (GRCh38)
            1:161203120 (GRCh37)
            Canonical SPDI:
            NC_000001.11:161233329:A:G,NC_000001.11:161233329:A:T
            Gene:
            NR1I3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            T=0.000106/2 (TOMMO)
            HGVS:
            NC_000001.11:g.161233330A>G, NC_000001.11:g.161233330A>T, NC_000001.10:g.161203120A>G, NC_000001.10:g.161203120A>T, NG_029113.1:g.9881T>C, NG_029113.1:g.9881T>A, NM_005122.5:c.247T>C, NM_005122.5:c.247T>A, NM_005122.4:c.247T>C, NM_005122.4:c.247T>A, NM_001077482.3:c.247T>C, NM_001077482.3:c.247T>A, NM_001077482.2:c.247T>C, NM_001077482.2:c.247T>A, NM_001077480.3:c.247T>C, NM_001077480.3:c.247T>A, NM_001077480.2:c.247T>C, NM_001077480.2:c.247T>A, NM_001077481.3:c.247T>C, NM_001077481.3:c.247T>A, NM_001077481.2:c.247T>C, NM_001077481.2:c.247T>A, NM_001077471.3:c.247T>C, NM_001077471.3:c.247T>A, NM_001077471.2:c.247T>C, NM_001077471.2:c.247T>A, NM_001077472.3:c.160T>C, NM_001077472.3:c.160T>A, NM_001077472.2:c.160T>C, NM_001077472.2:c.160T>A, NM_001077469.3:c.247T>C, NM_001077469.3:c.247T>A, NM_001077469.2:c.247T>C, NM_001077469.2:c.247T>A, NM_001077479.3:c.160T>C, NM_001077479.3:c.160T>A, NM_001077479.2:c.160T>C, NM_001077479.2:c.160T>A, NM_001077478.3:c.247T>C, NM_001077478.3:c.247T>A, NM_001077478.2:c.247T>C, NM_001077478.2:c.247T>A, NM_001077470.3:c.160T>C, NM_001077470.3:c.160T>A, NM_001077470.2:c.160T>C, NM_001077470.2:c.160T>A, NM_001077473.3:c.160T>C, NM_001077473.3:c.160T>A, NM_001077473.2:c.160T>C, NM_001077473.2:c.160T>A, NM_001077474.3:c.247T>C, NM_001077474.3:c.247T>A, NM_001077474.2:c.247T>C, NM_001077474.2:c.247T>A, NM_001077476.3:c.160T>C, NM_001077476.3:c.160T>A, NM_001077476.2:c.160T>C, NM_001077476.2:c.160T>A, NM_001077477.3:c.160T>C, NM_001077477.3:c.160T>A, NM_001077477.2:c.160T>C, NM_001077477.2:c.160T>A, NM_001077475.3:c.160T>C, NM_001077475.3:c.160T>A, NM_001077475.2:c.160T>C, NM_001077475.2:c.160T>A, XM_005245697.5:c.247T>C, XM_005245697.5:c.247T>A, XM_005245697.4:c.247T>C, XM_005245697.4:c.247T>A, XM_005245697.3:c.247T>C, XM_005245697.3:c.247T>A, XM_005245697.2:c.247T>C, XM_005245697.2:c.247T>A, XM_005245697.1:c.247T>C, XM_005245697.1:c.247T>A, XM_005245693.5:c.160T>C, XM_005245693.5:c.160T>A, XM_005245693.4:c.463T>C, XM_005245693.4:c.463T>A, XM_005245693.3:c.463T>C, XM_005245693.3:c.463T>A, XM_005245693.2:c.463T>C, XM_005245693.2:c.463T>A, XM_005245693.1:c.463T>C, XM_005245693.1:c.463T>A, NP_005113.1:p.Ser83Pro, NP_005113.1:p.Ser83Thr, NP_001070950.1:p.Ser83Pro, NP_001070950.1:p.Ser83Thr, NP_001070948.1:p.Ser83Pro, NP_001070948.1:p.Ser83Thr, NP_001070949.1:p.Ser83Pro, NP_001070949.1:p.Ser83Thr, NP_001070939.1:p.Ser83Pro, NP_001070939.1:p.Ser83Thr, NP_001070940.1:p.Ser54Pro, NP_001070940.1:p.Ser54Thr, NP_001070937.1:p.Ser83Pro, NP_001070937.1:p.Ser83Thr, NP_001070947.1:p.Ser54Pro, NP_001070947.1:p.Ser54Thr, NP_001070946.1:p.Ser83Pro, NP_001070946.1:p.Ser83Thr, NP_001070938.1:p.Ser54Pro, NP_001070938.1:p.Ser54Thr, NP_001070941.1:p.Ser54Pro, NP_001070941.1:p.Ser54Thr, NP_001070942.1:p.Ser83Pro, NP_001070942.1:p.Ser83Thr, NP_001070944.1:p.Ser54Pro, NP_001070944.1:p.Ser54Thr, NP_001070945.1:p.Ser54Pro, NP_001070945.1:p.Ser54Thr, NP_001070943.1:p.Ser54Pro, NP_001070943.1:p.Ser54Thr, XP_005245754.1:p.Ser83Pro, XP_005245754.1:p.Ser83Thr, XP_005245750.2:p.Ser54Pro, XP_005245750.2:p.Ser54Thr

            6.

            rs1481958098 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              1:161233236 (GRCh38)
              1:161203026 (GRCh37)
              Canonical SPDI:
              NC_000001.11:161233235:A:
              Gene:
              NR1I3 (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (GnomAD_exomes)
              -=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.161233236del, NC_000001.10:g.161203026del, NG_029113.1:g.9975del, NM_005122.5:c.341del, NM_005122.4:c.341del, NM_001077482.3:c.341del, NM_001077482.2:c.341del, NM_001077480.3:c.341del, NM_001077480.2:c.341del, NM_001077481.3:c.341del, NM_001077481.2:c.341del, NM_001077471.3:c.341del, NM_001077471.2:c.341del, NM_001077472.3:c.254del, NM_001077472.2:c.254del, NM_001077469.3:c.341del, NM_001077469.2:c.341del, NM_001077479.3:c.254del, NM_001077479.2:c.254del, NM_001077478.3:c.341del, NM_001077478.2:c.341del, NM_001077470.3:c.254del, NM_001077470.2:c.254del, NM_001077473.3:c.254del, NM_001077473.2:c.254del, NM_001077474.3:c.341del, NM_001077474.2:c.341del, NM_001077476.3:c.254del, NM_001077476.2:c.254del, NM_001077477.3:c.254del, NM_001077477.2:c.254del, NM_001077475.3:c.254del, NM_001077475.2:c.254del, XM_005245697.5:c.341del, XM_005245697.4:c.341del, XM_005245697.3:c.341del, XM_005245697.2:c.341del, XM_005245697.1:c.341del, XM_005245693.5:c.254del, XM_005245693.4:c.557del, XM_005245693.3:c.557del, XM_005245693.2:c.557del, XM_005245693.1:c.557del, NP_005113.1:p.Ile114fs, NP_001070950.1:p.Ile114fs, NP_001070948.1:p.Ile114fs, NP_001070949.1:p.Ile114fs, NP_001070939.1:p.Ile114fs, NP_001070940.1:p.Ile85fs, NP_001070937.1:p.Ile114fs, NP_001070947.1:p.Ile85fs, NP_001070946.1:p.Ile114fs, NP_001070938.1:p.Ile85fs, NP_001070941.1:p.Ile85fs, NP_001070942.1:p.Ile114fs, NP_001070944.1:p.Ile85fs, NP_001070945.1:p.Ile85fs, NP_001070943.1:p.Ile85fs, XP_005245754.1:p.Ile114fs, XP_005245750.2:p.Ile85fs

              7.

              rs1479394482 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:161231418 (GRCh38)
                1:161201208 (GRCh37)
                Canonical SPDI:
                NC_000001.11:161231417:C:T
                Gene:
                NR1I3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000009/2 (GnomAD_exomes)
                T=0.000014/2 (GnomAD)
                HGVS:
                NC_000001.11:g.161231418C>T, NC_000001.10:g.161201208C>T, NG_029113.1:g.11793G>A, NM_005122.5:c.605G>A, NM_005122.4:c.605G>A, NM_001077482.3:c.605G>A, NM_001077482.2:c.605G>A, NM_001077480.3:c.605G>A, NM_001077480.2:c.605G>A, NM_001077481.3:c.605G>A, NM_001077481.2:c.605G>A, NM_001077471.3:c.605G>A, NM_001077471.2:c.605G>A, NM_001077472.3:c.518G>A, NM_001077472.2:c.518G>A, NM_001077469.3:c.605G>A, NM_001077469.2:c.605G>A, NM_001077479.3:c.518G>A, NM_001077479.2:c.518G>A, NM_001077478.3:c.605G>A, NM_001077478.2:c.605G>A, NM_001077470.3:c.518G>A, NM_001077470.2:c.518G>A, NM_001077473.3:c.518G>A, NM_001077473.2:c.518G>A, NM_001077474.3:c.605G>A, NM_001077474.2:c.605G>A, NM_001077476.3:c.518G>A, NM_001077476.2:c.518G>A, NM_001077477.3:c.518G>A, NM_001077477.2:c.518G>A, NM_001077475.3:c.518G>A, NM_001077475.2:c.518G>A, XM_005245697.5:c.605G>A, XM_005245697.4:c.605G>A, XM_005245697.3:c.605G>A, XM_005245697.2:c.605G>A, XM_005245697.1:c.605G>A, XM_005245693.5:c.518G>A, XM_005245693.4:c.821G>A, XM_005245693.3:c.821G>A, XM_005245693.2:c.821G>A, XM_005245693.1:c.821G>A, NP_005113.1:p.Cys202Tyr, NP_001070950.1:p.Cys202Tyr, NP_001070948.1:p.Cys202Tyr, NP_001070949.1:p.Cys202Tyr, NP_001070939.1:p.Cys202Tyr, NP_001070940.1:p.Cys173Tyr, NP_001070937.1:p.Cys202Tyr, NP_001070947.1:p.Cys173Tyr, NP_001070946.1:p.Cys202Tyr, NP_001070938.1:p.Cys173Tyr, NP_001070941.1:p.Cys173Tyr, NP_001070942.1:p.Cys202Tyr, NP_001070944.1:p.Cys173Tyr, NP_001070945.1:p.Cys173Tyr, NP_001070943.1:p.Cys173Tyr, XP_005245754.1:p.Cys202Tyr, XP_005245750.2:p.Cys173Tyr

                8.

                rs1479371581 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:161231159 (GRCh38)
                  1:161200949 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:161231158:G:C
                  Gene:
                  NR1I3 (Varview), TOMM40L (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,missense_variant,intron_variant,500B_downstream_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.161231159G>C, NC_000001.10:g.161200949G>C, NG_029113.1:g.12052C>G, NM_005122.5:c.769C>G, NM_005122.4:c.769C>G, NM_001077482.3:c.781C>G, NM_001077482.2:c.781C>G, NM_001077480.3:c.781C>G, NM_001077480.2:c.781C>G, NM_001077472.3:c.682C>G, NM_001077472.2:c.682C>G, NM_001077469.3:c.769C>G, NM_001077469.2:c.769C>G, NM_001077479.3:c.682C>G, NM_001077479.2:c.682C>G, NM_001077478.3:c.781C>G, NM_001077478.2:c.781C>G, NM_001077473.3:c.694C>G, NM_001077473.2:c.694C>G, NM_001077476.3:c.682C>G, NM_001077476.2:c.682C>G, NM_001077477.3:c.682C>G, NM_001077477.2:c.682C>G, XM_005245697.5:c.769C>G, XM_005245697.4:c.769C>G, XM_005245697.3:c.769C>G, XM_005245697.2:c.769C>G, XM_005245697.1:c.769C>G, XM_005245693.5:c.694C>G, XM_005245693.4:c.997C>G, XM_005245693.3:c.997C>G, XM_005245693.2:c.997C>G, XM_005245693.1:c.997C>G, NP_005113.1:p.Pro257Ala, NP_001070950.1:p.Pro261Ala, NP_001070948.1:p.Pro261Ala, NP_001070940.1:p.Pro228Ala, NP_001070937.1:p.Pro257Ala, NP_001070947.1:p.Pro228Ala, NP_001070946.1:p.Pro261Ala, NP_001070941.1:p.Pro232Ala, NP_001070944.1:p.Pro228Ala, NP_001070945.1:p.Pro228Ala, XP_005245754.1:p.Pro257Ala, XP_005245750.2:p.Pro232Ala

                  9.

                  rs1477901959 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:161233306 (GRCh38)
                    1:161203096 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:161233305:G:A
                    Gene:
                    NR1I3 (Varview)
                    Functional Consequence:
                    stop_gained,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    A=0.000016/4 (GnomAD_exomes)
                    A=0.000071/1 (TOMMO)
                    HGVS:
                    NC_000001.11:g.161233306G>A, NC_000001.10:g.161203096G>A, NG_029113.1:g.9905C>T, NM_005122.5:c.271C>T, NM_005122.4:c.271C>T, NM_001077482.3:c.271C>T, NM_001077482.2:c.271C>T, NM_001077480.3:c.271C>T, NM_001077480.2:c.271C>T, NM_001077481.3:c.271C>T, NM_001077481.2:c.271C>T, NM_001077471.3:c.271C>T, NM_001077471.2:c.271C>T, NM_001077472.3:c.184C>T, NM_001077472.2:c.184C>T, NM_001077469.3:c.271C>T, NM_001077469.2:c.271C>T, NM_001077479.3:c.184C>T, NM_001077479.2:c.184C>T, NM_001077478.3:c.271C>T, NM_001077478.2:c.271C>T, NM_001077470.3:c.184C>T, NM_001077470.2:c.184C>T, NM_001077473.3:c.184C>T, NM_001077473.2:c.184C>T, NM_001077474.3:c.271C>T, NM_001077474.2:c.271C>T, NM_001077476.3:c.184C>T, NM_001077476.2:c.184C>T, NM_001077477.3:c.184C>T, NM_001077477.2:c.184C>T, NM_001077475.3:c.184C>T, NM_001077475.2:c.184C>T, XM_005245697.5:c.271C>T, XM_005245697.4:c.271C>T, XM_005245697.3:c.271C>T, XM_005245697.2:c.271C>T, XM_005245697.1:c.271C>T, XM_005245693.5:c.184C>T, XM_005245693.4:c.487C>T, XM_005245693.3:c.487C>T, XM_005245693.2:c.487C>T, XM_005245693.1:c.487C>T, NP_005113.1:p.Arg91Ter, NP_001070950.1:p.Arg91Ter, NP_001070948.1:p.Arg91Ter, NP_001070949.1:p.Arg91Ter, NP_001070939.1:p.Arg91Ter, NP_001070940.1:p.Arg62Ter, NP_001070937.1:p.Arg91Ter, NP_001070947.1:p.Arg62Ter, NP_001070946.1:p.Arg91Ter, NP_001070938.1:p.Arg62Ter, NP_001070941.1:p.Arg62Ter, NP_001070942.1:p.Arg91Ter, NP_001070944.1:p.Arg62Ter, NP_001070945.1:p.Arg62Ter, NP_001070943.1:p.Arg62Ter, XP_005245754.1:p.Arg91Ter, XP_005245750.2:p.Arg62Ter

                    10.

                    rs1477237042 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:161232923 (GRCh38)
                      1:161202713 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:161232922:A:G
                      Gene:
                      NR1I3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000001.11:g.161232923A>G, NC_000001.10:g.161202713A>G, NG_029113.1:g.10288T>C, NM_005122.5:c.432T>C, NM_005122.4:c.432T>C, NM_001077482.3:c.432T>C, NM_001077482.2:c.432T>C, NM_001077480.3:c.432T>C, NM_001077480.2:c.432T>C, NM_001077481.3:c.432T>C, NM_001077481.2:c.432T>C, NM_001077471.3:c.432T>C, NM_001077471.2:c.432T>C, NM_001077472.3:c.345T>C, NM_001077472.2:c.345T>C, NM_001077469.3:c.432T>C, NM_001077469.2:c.432T>C, NM_001077479.3:c.345T>C, NM_001077479.2:c.345T>C, NM_001077478.3:c.432T>C, NM_001077478.2:c.432T>C, NM_001077470.3:c.345T>C, NM_001077470.2:c.345T>C, NM_001077473.3:c.345T>C, NM_001077473.2:c.345T>C, NM_001077474.3:c.432T>C, NM_001077474.2:c.432T>C, NM_001077476.3:c.345T>C, NM_001077476.2:c.345T>C, NM_001077477.3:c.345T>C, NM_001077477.2:c.345T>C, NM_001077475.3:c.345T>C, NM_001077475.2:c.345T>C, XM_005245697.5:c.432T>C, XM_005245697.4:c.432T>C, XM_005245697.3:c.432T>C, XM_005245697.2:c.432T>C, XM_005245697.1:c.432T>C, XM_005245693.5:c.345T>C, XM_005245693.4:c.648T>C, XM_005245693.3:c.648T>C, XM_005245693.2:c.648T>C, XM_005245693.1:c.648T>C

                      11.

                      rs1473058537 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:161232902 (GRCh38)
                        1:161202692 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:161232901:C:T
                        Gene:
                        NR1I3 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (GnomAD_exomes)
                        T=0.000015/4 (TOPMED)
                        T=0.00005/7 (GnomAD)
                        HGVS:
                        NC_000001.11:g.161232902C>T, NC_000001.10:g.161202692C>T, NG_029113.1:g.10309G>A, NM_005122.5:c.453G>A, NM_005122.4:c.453G>A, NM_001077482.3:c.453G>A, NM_001077482.2:c.453G>A, NM_001077480.3:c.453G>A, NM_001077480.2:c.453G>A, NM_001077481.3:c.453G>A, NM_001077481.2:c.453G>A, NM_001077471.3:c.453G>A, NM_001077471.2:c.453G>A, NM_001077472.3:c.366G>A, NM_001077472.2:c.366G>A, NM_001077469.3:c.453G>A, NM_001077469.2:c.453G>A, NM_001077479.3:c.366G>A, NM_001077479.2:c.366G>A, NM_001077478.3:c.453G>A, NM_001077478.2:c.453G>A, NM_001077470.3:c.366G>A, NM_001077470.2:c.366G>A, NM_001077473.3:c.366G>A, NM_001077473.2:c.366G>A, NM_001077474.3:c.453G>A, NM_001077474.2:c.453G>A, NM_001077476.3:c.366G>A, NM_001077476.2:c.366G>A, NM_001077477.3:c.366G>A, NM_001077477.2:c.366G>A, NM_001077475.3:c.366G>A, NM_001077475.2:c.366G>A, XM_005245697.5:c.453G>A, XM_005245697.4:c.453G>A, XM_005245697.3:c.453G>A, XM_005245697.2:c.453G>A, XM_005245697.1:c.453G>A, XM_005245693.5:c.366G>A, XM_005245693.4:c.669G>A, XM_005245693.3:c.669G>A, XM_005245693.2:c.669G>A, XM_005245693.1:c.669G>A

                        12.

                        rs1472563796 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          1:161232909 (GRCh38)
                          1:161202699 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:161232908:G:T
                          Gene:
                          NR1I3 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000001.11:g.161232909G>T, NC_000001.10:g.161202699G>T, NG_029113.1:g.10302C>A, NM_005122.5:c.446C>A, NM_005122.4:c.446C>A, NM_001077482.3:c.446C>A, NM_001077482.2:c.446C>A, NM_001077480.3:c.446C>A, NM_001077480.2:c.446C>A, NM_001077481.3:c.446C>A, NM_001077481.2:c.446C>A, NM_001077471.3:c.446C>A, NM_001077471.2:c.446C>A, NM_001077472.3:c.359C>A, NM_001077472.2:c.359C>A, NM_001077469.3:c.446C>A, NM_001077469.2:c.446C>A, NM_001077479.3:c.359C>A, NM_001077479.2:c.359C>A, NM_001077478.3:c.446C>A, NM_001077478.2:c.446C>A, NM_001077470.3:c.359C>A, NM_001077470.2:c.359C>A, NM_001077473.3:c.359C>A, NM_001077473.2:c.359C>A, NM_001077474.3:c.446C>A, NM_001077474.2:c.446C>A, NM_001077476.3:c.359C>A, NM_001077476.2:c.359C>A, NM_001077477.3:c.359C>A, NM_001077477.2:c.359C>A, NM_001077475.3:c.359C>A, NM_001077475.2:c.359C>A, XM_005245697.5:c.446C>A, XM_005245697.4:c.446C>A, XM_005245697.3:c.446C>A, XM_005245697.2:c.446C>A, XM_005245697.1:c.446C>A, XM_005245693.5:c.359C>A, XM_005245693.4:c.662C>A, XM_005245693.3:c.662C>A, XM_005245693.2:c.662C>A, XM_005245693.1:c.662C>A, NP_005113.1:p.Pro149His, NP_001070950.1:p.Pro149His, NP_001070948.1:p.Pro149His, NP_001070949.1:p.Pro149His, NP_001070939.1:p.Pro149His, NP_001070940.1:p.Pro120His, NP_001070937.1:p.Pro149His, NP_001070947.1:p.Pro120His, NP_001070946.1:p.Pro149His, NP_001070938.1:p.Pro120His, NP_001070941.1:p.Pro120His, NP_001070942.1:p.Pro149His, NP_001070944.1:p.Pro120His, NP_001070945.1:p.Pro120His, NP_001070943.1:p.Pro120His, XP_005245754.1:p.Pro149His, XP_005245750.2:p.Pro120His

                          13.

                          rs1469270794 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:161230845 (GRCh38)
                            1:161200635 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:161230844:G:A
                            Gene:
                            NR1I3 (Varview), TOMM40L (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.161230845G>A, NC_000001.10:g.161200635G>A, NG_029113.1:g.12366C>T, NM_005122.5:c.885C>T, NM_005122.4:c.885C>T, NM_001077482.3:c.912C>T, NM_001077482.2:c.912C>T, NM_001077480.3:c.897C>T, NM_001077480.2:c.897C>T, NM_001077481.3:c.783C>T, NM_001077481.2:c.783C>T, NM_001077471.3:c.768C>T, NM_001077471.2:c.768C>T, NM_001077472.3:c.813C>T, NM_001077472.2:c.813C>T, NM_001077469.3:c.900C>T, NM_001077469.2:c.900C>T, NM_001077479.3:c.798C>T, NM_001077479.2:c.798C>T, NM_001077478.3:c.897C>T, NM_001077478.2:c.897C>T, NM_001077470.3:c.681C>T, NM_001077470.2:c.681C>T, NM_001077473.3:c.825C>T, NM_001077473.2:c.825C>T, NM_001077474.3:c.768C>T, NM_001077474.2:c.768C>T, NM_001077476.3:c.813C>T, NM_001077476.2:c.813C>T, NM_001077477.3:c.798C>T, NM_001077477.2:c.798C>T, NM_001077475.3:c.681C>T, NM_001077475.2:c.681C>T, XM_005245697.5:c.900C>T, XM_005245697.4:c.900C>T, XM_005245697.3:c.900C>T, XM_005245697.2:c.900C>T, XM_005245697.1:c.900C>T, XM_005245693.5:c.825C>T, XM_005245693.4:c.1128C>T, XM_005245693.3:c.1128C>T, XM_005245693.2:c.1128C>T, XM_005245693.1:c.1128C>T

                            14.

                            rs1466421475 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:161229881 (GRCh38)
                              1:161199671 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:161229880:G:T
                              Gene:
                              NR1I3 (Varview), TOMM40L (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_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_000001.11:g.161229881G>T, NC_000001.10:g.161199671G>T, NG_029113.1:g.13330C>A, NM_005122.5:c.963C>A, NM_005122.4:c.963C>A, NM_001077482.3:c.990C>A, NM_001077482.2:c.990C>A, NM_001077480.3:c.975C>A, NM_001077480.2:c.975C>A, NM_001077481.3:c.861C>A, NM_001077481.2:c.861C>A, NM_001077471.3:c.846C>A, NM_001077471.2:c.846C>A, NM_001077472.3:c.891C>A, NM_001077472.2:c.891C>A, NM_001077479.3:c.876C>A, NM_001077479.2:c.876C>A, NM_001077470.3:c.759C>A, NM_001077470.2:c.759C>A, NM_032174.6:c.*786G>T, NM_032174.5:c.*786G>T, NM_032174.4:c.*786G>T, XM_005245697.5:c.978C>A, XM_005245697.4:c.978C>A, XM_005245697.3:c.978C>A, XM_005245697.2:c.978C>A, XM_005245697.1:c.978C>A, XM_005245693.5:c.903C>A, XM_005245693.4:c.1206C>A, XM_005245693.3:c.1206C>A, XM_005245693.2:c.1206C>A, XM_005245693.1:c.1206C>A, XM_006711572.3:c.*786G>T, XM_006711572.2:c.*786G>T, XM_006711572.1:c.*786G>T, XM_011510057.3:c.*786G>T, XM_011510057.2:c.*786G>T, XM_011510057.1:c.*786G>T, NM_001286373.2:c.*786G>T, NM_001286373.1:c.*786G>T, NM_001286374.2:c.*786G>T, NM_001286374.1:c.*786G>T, XM_047431897.1:c.*786G>T, NP_005113.1:p.Ser321Arg, NP_001070950.1:p.Ser330Arg, NP_001070948.1:p.Ser325Arg, NP_001070949.1:p.Ser287Arg, NP_001070939.1:p.Ser282Arg, NP_001070940.1:p.Ser297Arg, NP_001070947.1:p.Ser292Arg, NP_001070938.1:p.Ser253Arg, XP_005245754.1:p.Ser326Arg, XP_005245750.2:p.Ser301Arg

                              15.

                              rs1461338490 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:161231207 (GRCh38)
                                1:161200997 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:161231206:A:G
                                Gene:
                                NR1I3 (Varview), TOMM40L (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.161231207A>G, NC_000001.10:g.161200997A>G, NG_029113.1:g.12004T>C, NM_005122.5:c.721T>C, NM_005122.4:c.721T>C, NM_001077482.3:c.733T>C, NM_001077482.2:c.733T>C, NM_001077480.3:c.733T>C, NM_001077480.2:c.733T>C, NM_001077472.3:c.634T>C, NM_001077472.2:c.634T>C, NM_001077469.3:c.721T>C, NM_001077469.2:c.721T>C, NM_001077479.3:c.634T>C, NM_001077479.2:c.634T>C, NM_001077478.3:c.733T>C, NM_001077478.2:c.733T>C, NM_001077473.3:c.646T>C, NM_001077473.2:c.646T>C, NM_001077476.3:c.634T>C, NM_001077476.2:c.634T>C, NM_001077477.3:c.634T>C, NM_001077477.2:c.634T>C, XM_005245697.5:c.721T>C, XM_005245697.4:c.721T>C, XM_005245697.3:c.721T>C, XM_005245697.2:c.721T>C, XM_005245697.1:c.721T>C, XM_005245693.5:c.646T>C, XM_005245693.4:c.949T>C, XM_005245693.3:c.949T>C, XM_005245693.2:c.949T>C, XM_005245693.1:c.949T>C

                                16.

                                rs1452703962 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:161232812 (GRCh38)
                                  1:161202602 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:161232811:G:A
                                  Gene:
                                  NR1I3 (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=0.000008/2 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.161232812G>A, NC_000001.10:g.161202602G>A, NG_029113.1:g.10399C>T, NM_005122.5:c.543C>T, NM_005122.4:c.543C>T, NM_001077482.3:c.543C>T, NM_001077482.2:c.543C>T, NM_001077480.3:c.543C>T, NM_001077480.2:c.543C>T, NM_001077481.3:c.543C>T, NM_001077481.2:c.543C>T, NM_001077471.3:c.543C>T, NM_001077471.2:c.543C>T, NM_001077472.3:c.456C>T, NM_001077472.2:c.456C>T, NM_001077469.3:c.543C>T, NM_001077469.2:c.543C>T, NM_001077479.3:c.456C>T, NM_001077479.2:c.456C>T, NM_001077478.3:c.543C>T, NM_001077478.2:c.543C>T, NM_001077470.3:c.456C>T, NM_001077470.2:c.456C>T, NM_001077473.3:c.456C>T, NM_001077473.2:c.456C>T, NM_001077474.3:c.543C>T, NM_001077474.2:c.543C>T, NM_001077476.3:c.456C>T, NM_001077476.2:c.456C>T, NM_001077477.3:c.456C>T, NM_001077477.2:c.456C>T, NM_001077475.3:c.456C>T, NM_001077475.2:c.456C>T, XM_005245697.5:c.543C>T, XM_005245697.4:c.543C>T, XM_005245697.3:c.543C>T, XM_005245697.2:c.543C>T, XM_005245697.1:c.543C>T, XM_005245693.5:c.456C>T, XM_005245693.4:c.759C>T, XM_005245693.3:c.759C>T, XM_005245693.2:c.759C>T, XM_005245693.1:c.759C>T

                                  17.

                                  rs1449563261 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:161232833 (GRCh38)
                                    1:161202623 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:161232832:C:T
                                    Gene:
                                    NR1I3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_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_000001.11:g.161232833C>T, NC_000001.10:g.161202623C>T, NG_029113.1:g.10378G>A, NM_005122.5:c.522G>A, NM_005122.4:c.522G>A, NM_001077482.3:c.522G>A, NM_001077482.2:c.522G>A, NM_001077480.3:c.522G>A, NM_001077480.2:c.522G>A, NM_001077481.3:c.522G>A, NM_001077481.2:c.522G>A, NM_001077471.3:c.522G>A, NM_001077471.2:c.522G>A, NM_001077472.3:c.435G>A, NM_001077472.2:c.435G>A, NM_001077469.3:c.522G>A, NM_001077469.2:c.522G>A, NM_001077479.3:c.435G>A, NM_001077479.2:c.435G>A, NM_001077478.3:c.522G>A, NM_001077478.2:c.522G>A, NM_001077470.3:c.435G>A, NM_001077470.2:c.435G>A, NM_001077473.3:c.435G>A, NM_001077473.2:c.435G>A, NM_001077474.3:c.522G>A, NM_001077474.2:c.522G>A, NM_001077476.3:c.435G>A, NM_001077476.2:c.435G>A, NM_001077477.3:c.435G>A, NM_001077477.2:c.435G>A, NM_001077475.3:c.435G>A, NM_001077475.2:c.435G>A, XM_005245697.5:c.522G>A, XM_005245697.4:c.522G>A, XM_005245697.3:c.522G>A, XM_005245697.2:c.522G>A, XM_005245697.1:c.522G>A, XM_005245693.5:c.435G>A, XM_005245693.4:c.738G>A, XM_005245693.3:c.738G>A, XM_005245693.2:c.738G>A, XM_005245693.1:c.738G>A

                                    18.

                                    rs1445674207 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:161231121 (GRCh38)
                                      1:161200911 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:161231120:A:G
                                      Gene:
                                      NR1I3 (Varview), TOMM40L (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.161231121A>G, NC_000001.10:g.161200911A>G, NG_029113.1:g.12090T>C, NM_005122.5:c.807T>C, NM_005122.4:c.807T>C, NM_001077482.3:c.819T>C, NM_001077482.2:c.819T>C, NM_001077480.3:c.819T>C, NM_001077480.2:c.819T>C, NM_001077472.3:c.720T>C, NM_001077472.2:c.720T>C, NM_001077469.3:c.807T>C, NM_001077469.2:c.807T>C, NM_001077479.3:c.720T>C, NM_001077479.2:c.720T>C, NM_001077478.3:c.819T>C, NM_001077478.2:c.819T>C, NM_001077473.3:c.732T>C, NM_001077473.2:c.732T>C, NM_001077476.3:c.720T>C, NM_001077476.2:c.720T>C, NM_001077477.3:c.720T>C, NM_001077477.2:c.720T>C, XM_005245697.5:c.807T>C, XM_005245697.4:c.807T>C, XM_005245697.3:c.807T>C, XM_005245697.2:c.807T>C, XM_005245697.1:c.807T>C, XM_005245693.5:c.732T>C, XM_005245693.4:c.1035T>C, XM_005245693.3:c.1035T>C, XM_005245693.2:c.1035T>C, XM_005245693.1:c.1035T>C

                                      19.

                                      rs1444496793 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:161235917 (GRCh38)
                                        1:161205707 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:161235916:G:A
                                        Gene:
                                        NR1I3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        HGVS:
                                        NC_000001.11:g.161235917G>A, NC_000001.10:g.161205707G>A, NG_029113.1:g.7294C>T, NM_005122.5:c.168C>T, NM_005122.4:c.168C>T, NM_001077482.3:c.168C>T, NM_001077482.2:c.168C>T, NM_001077480.3:c.168C>T, NM_001077480.2:c.168C>T, NM_001077481.3:c.168C>T, NM_001077481.2:c.168C>T, NM_001077471.3:c.168C>T, NM_001077471.2:c.168C>T, NM_001077472.3:c.81C>T, NM_001077472.2:c.81C>T, NM_001077469.3:c.168C>T, NM_001077469.2:c.168C>T, NM_001077479.3:c.81C>T, NM_001077479.2:c.81C>T, NM_001077478.3:c.168C>T, NM_001077478.2:c.168C>T, NM_001077470.3:c.81C>T, NM_001077470.2:c.81C>T, NM_001077473.3:c.81C>T, NM_001077473.2:c.81C>T, NM_001077474.3:c.168C>T, NM_001077474.2:c.168C>T, NM_001077476.3:c.81C>T, NM_001077476.2:c.81C>T, NM_001077477.3:c.81C>T, NM_001077477.2:c.81C>T, NM_001077475.3:c.81C>T, NM_001077475.2:c.81C>T, XM_005245697.5:c.168C>T, XM_005245697.4:c.168C>T, XM_005245697.3:c.168C>T, XM_005245697.2:c.168C>T, XM_005245697.1:c.168C>T, XM_005245693.5:c.81C>T, XM_005245693.4:c.384C>T, XM_005245693.3:c.384C>T, XM_005245693.2:c.384C>T, XM_005245693.1:c.384C>T

                                        20.

                                        rs1442102305 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:161231436 (GRCh38)
                                          1:161201226 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:161231435:C:G
                                          Gene:
                                          NR1I3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.161231436C>G, NC_000001.10:g.161201226C>G, NG_029113.1:g.11775G>C, NM_005122.5:c.587G>C, NM_005122.4:c.587G>C, NM_001077482.3:c.587G>C, NM_001077482.2:c.587G>C, NM_001077480.3:c.587G>C, NM_001077480.2:c.587G>C, NM_001077481.3:c.587G>C, NM_001077481.2:c.587G>C, NM_001077471.3:c.587G>C, NM_001077471.2:c.587G>C, NM_001077472.3:c.500G>C, NM_001077472.2:c.500G>C, NM_001077469.3:c.587G>C, NM_001077469.2:c.587G>C, NM_001077479.3:c.500G>C, NM_001077479.2:c.500G>C, NM_001077478.3:c.587G>C, NM_001077478.2:c.587G>C, NM_001077470.3:c.500G>C, NM_001077470.2:c.500G>C, NM_001077473.3:c.500G>C, NM_001077473.2:c.500G>C, NM_001077474.3:c.587G>C, NM_001077474.2:c.587G>C, NM_001077476.3:c.500G>C, NM_001077476.2:c.500G>C, NM_001077477.3:c.500G>C, NM_001077477.2:c.500G>C, NM_001077475.3:c.500G>C, NM_001077475.2:c.500G>C, XM_005245697.5:c.587G>C, XM_005245697.4:c.587G>C, XM_005245697.3:c.587G>C, XM_005245697.2:c.587G>C, XM_005245697.1:c.587G>C, XM_005245693.5:c.500G>C, XM_005245693.4:c.803G>C, XM_005245693.3:c.803G>C, XM_005245693.2:c.803G>C, XM_005245693.1:c.803G>C, NP_005113.1:p.Gly196Ala, NP_001070950.1:p.Gly196Ala, NP_001070948.1:p.Gly196Ala, NP_001070949.1:p.Gly196Ala, NP_001070939.1:p.Gly196Ala, NP_001070940.1:p.Gly167Ala, NP_001070937.1:p.Gly196Ala, NP_001070947.1:p.Gly167Ala, NP_001070946.1:p.Gly196Ala, NP_001070938.1:p.Gly167Ala, NP_001070941.1:p.Gly167Ala, NP_001070942.1:p.Gly196Ala, NP_001070944.1:p.Gly167Ala, NP_001070945.1:p.Gly167Ala, NP_001070943.1:p.Gly167Ala, XP_005245754.1:p.Gly196Ala, XP_005245750.2:p.Gly167Ala

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