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Items: 1 to 20 of 225

1.

rs1485802786 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    X:48486111 (GRCh38)
    X:48344499 (GRCh37)
    Canonical SPDI:
    NC_000023.11:48486110:A:T
    Gene:
    FTSJ1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.00001/1 (GnomAD)
    HGVS:

    2.

    rs1482624850 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:48486141 (GRCh38)
      X:48344529 (GRCh37)
      Canonical SPDI:
      NC_000023.11:48486140:G:A
      Gene:
      FTSJ1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000162/3 (ALFA)
      A=0.00001/1 (GnomAD)
      A=0.000015/4 (TOPMED)
      HGVS:

      3.

      rs1481807407 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:48485926 (GRCh38)
        X:48344314 (GRCh37)
        Canonical SPDI:
        NC_000023.11:48485925:T:C
        Gene:
        FTSJ1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000023/6 (TOPMED)
        C=0.000038/4 (GnomAD)
        HGVS:

        4.

        rs1475718087 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTAATATATAGTA>- [Show Flanks]
          Chromosome:
          X:48486317 (GRCh38)
          X:48344705 (GRCh37)
          Canonical SPDI:
          NC_000023.11:48486315:ATTTAATATATAGTA:A
          Gene:
          FTSJ1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.00001/1 (GnomAD)
          HGVS:

          5.

          rs1471760456 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:48481703 (GRCh38)
            X:48340091 (GRCh37)
            Canonical SPDI:
            NC_000023.11:48481702:G:A
            Gene:
            FTSJ1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000023.11:g.48481703G>A, NC_000023.10:g.48340091G>A, NG_008879.1:g.10543G>A, NM_012280.4:c.643G>A, NM_012280.3:c.643G>A, NM_012280.2:c.643G>A, NM_177439.3:c.643G>A, NM_177439.2:c.643G>A, NM_177439.1:c.643G>A, NM_001282157.1:c.232G>A, NW_004070880.2:g.721132G>A, XR_949015.3:n.928G>A, XR_949015.2:n.957G>A, XR_949015.1:n.1061G>A, XR_949016.3:n.928G>A, XR_949016.2:n.957G>A, XR_949016.1:n.1061G>A, XM_005272595.3:c.643G>A, XM_005272595.2:c.643G>A, XM_005272595.1:c.643G>A, XM_024452359.2:c.643G>A, XM_024452359.1:c.643G>A, XR_007068186.1:n.928G>A, NM_177434.1:c.643G>A, XM_047441943.1:c.643G>A, XM_047441945.1:c.643G>A, XM_047441942.1:c.643G>A, XM_047441944.1:c.643G>A, NP_036412.1:p.Asp215Asn, NP_803188.1:p.Asp215Asn, NP_001269086.1:p.Asp78Asn, XP_005272652.1:p.Asp215Asn, XP_024308127.1:p.Asp215Asn, XP_047297899.1:p.Asp215Asn, XP_047297901.1:p.Asp215Asn, XP_047297898.1:p.Asp215Asn, XP_047297900.1:p.Asp215Asn

            6.

            rs1468602297 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              X:48476241 (GRCh38)
              X:48334629 (GRCh37)
              Canonical SPDI:
              NC_000023.11:48476240:G:T
              Gene:
              FTSJ1 (Varview), LOC124905185 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000019/2 (GnomAD)
              HGVS:

              7.

              rs1461020769 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                X:48476264 (GRCh38)
                X:48334652 (GRCh37)
                Canonical SPDI:
                NC_000023.11:48476263:A:G,NC_000023.11:48476263:A:T
                Gene:
                FTSJ1 (Varview), LOC124905185 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000009/1 (GnomAD)
                HGVS:
                NC_000023.11:g.48476264A>G, NC_000023.11:g.48476264A>T, NC_000023.10:g.48334652A>G, NC_000023.10:g.48334652A>T, NG_008879.1:g.5104A>G, NG_008879.1:g.5104A>T, NM_012280.4:c.-220A>G, NM_012280.4:c.-220A>T, NM_012280.3:c.-220A>G, NM_012280.3:c.-220A>T, NM_012280.2:c.-220A>G, NM_012280.2:c.-220A>T, NM_177439.3:c.-326A>G, NM_177439.3:c.-326A>T, NM_177439.2:c.-326A>G, NM_177439.2:c.-326A>T, NM_177439.1:c.-326A>G, NM_177439.1:c.-326A>T, NM_001282157.1:c.-209A>G, NM_001282157.1:c.-209A>T, NW_004070880.2:g.715693A>G, NW_004070880.2:g.715693A>T, XR_949015.3:n.66A>G, XR_949015.3:n.66A>T, XR_949015.2:n.95A>G, XR_949015.2:n.95A>T, XR_949015.1:n.199A>G, XR_949015.1:n.199A>T, XR_949016.3:n.66A>G, XR_949016.3:n.66A>T, XR_949016.2:n.95A>G, XR_949016.2:n.95A>T, XR_949016.1:n.199A>G, XR_949016.1:n.199A>T, XM_005272595.3:c.-220A>G, XM_005272595.3:c.-220A>T, XM_005272595.2:c.-220A>G, XM_005272595.2:c.-220A>T, XM_005272595.1:c.-220A>G, XM_005272595.1:c.-220A>T, XM_024452359.2:c.-326A>G, XM_024452359.2:c.-326A>T, XM_024452359.1:c.-326A>G, XM_024452359.1:c.-326A>T, XR_007068186.1:n.66A>G, XR_007068186.1:n.66A>T, XM_047441943.1:c.-326A>G, XM_047441943.1:c.-326A>T, XM_047441945.1:c.-326A>G, XM_047441945.1:c.-326A>T, XR_007068226.1:n.80T>C, XR_007068226.1:n.80T>A, XM_047441942.1:c.-220A>G, XM_047441942.1:c.-220A>T, XM_047441944.1:c.-220A>G, XM_047441944.1:c.-220A>T

                8.

                rs1459289151 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  X:48486278 (GRCh38)
                  X:48344666 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:48486277:A:T
                  Gene:
                  FTSJ1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1451517663 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:48476302 (GRCh38)
                    X:48334690 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:48476301:C:T
                    Gene:
                    FTSJ1 (Varview), LOC124905185 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000015/4 (TOPMED)
                    HGVS:

                    10.

                    rs1444044040 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      X:48485853 (GRCh38)
                      X:48344241 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:48485852:GGG:GG
                      Gene:
                      FTSJ1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GG=0./0 (ALFA)
                      -=0.000287/30 (GnomAD)
                      -=0.000306/81 (TOPMED)
                      HGVS:

                      11.

                      rs1439918796 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:48481458 (GRCh38)
                        X:48339846 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:48481457:C:T
                        Gene:
                        FTSJ1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1432125513 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:48476091 (GRCh38)
                          X:48334479 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:48476090:C:T
                          Gene:
                          FTSJ1 (Varview), LOC124905185 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1429245500 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CTGT>- [Show Flanks]
                            Chromosome:
                            X:48485905 (GRCh38)
                            X:48344293 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:48485898:GTCTGTCTGT:GTCTGT
                            Gene:
                            FTSJ1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GTCTGT=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1424891069 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:48482649 (GRCh38)
                              X:48341037 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:48482648:C:T
                              Gene:
                              FTSJ1 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000006/1 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              T=0.00001/1 (GnomAD)
                              HGVS:
                              NC_000023.11:g.48482649C>T, NC_000023.10:g.48341037C>T, NG_008879.1:g.11489C>T, NM_012280.4:c.812C>T, NM_012280.3:c.812C>T, NM_012280.2:c.812C>T, NM_177439.3:c.806C>T, NM_177439.2:c.806C>T, NM_177439.1:c.806C>T, NM_001282157.1:c.401C>T, NW_004070880.2:g.722078C>T, XR_949015.3:n.1097C>T, XR_949015.2:n.1126C>T, XR_949015.1:n.1230C>T, XR_949016.3:n.1097C>T, XR_949016.2:n.1126C>T, XR_949016.1:n.1230C>T, XM_005272595.3:c.806C>T, XM_005272595.2:c.806C>T, XM_005272595.1:c.806C>T, XM_024452359.2:c.812C>T, XM_024452359.1:c.812C>T, XR_007068186.1:n.1091C>T, NM_177434.1:c.806C>T, XM_047441943.1:c.812C>T, XM_047441945.1:c.806C>T, XM_047441942.1:c.812C>T, XM_047441944.1:c.806C>T, NP_036412.1:p.Ser271Leu, NP_803188.1:p.Ser269Leu, NP_001269086.1:p.Ser134Leu, XP_005272652.1:p.Ser269Leu, XP_024308127.1:p.Ser271Leu, XP_047297899.1:p.Ser271Leu, XP_047297901.1:p.Ser269Leu, XP_047297898.1:p.Ser271Leu, XP_047297900.1:p.Ser269Leu

                              15.

                              rs1423476970 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:48481449 (GRCh38)
                                X:48339837 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:48481448:G:A
                                Gene:
                                FTSJ1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000019/2 (GnomAD)
                                HGVS:

                                16.

                                rs1422788704 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  X:48486354 (GRCh38)
                                  X:48344742 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:48486353:G:C
                                  Gene:
                                  FTSJ1 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.00001/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1413962382 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    X:48482761 (GRCh38)
                                    X:48341149 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:48482760:C:A,NC_000023.11:48482760:C:G,NC_000023.11:48482760:C:T
                                    Gene:
                                    FTSJ1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    T=0.000058/6 (GnomAD)
                                    HGVS:
                                    NC_000023.11:g.48482761C>A, NC_000023.11:g.48482761C>G, NC_000023.11:g.48482761C>T, NC_000023.10:g.48341149C>A, NC_000023.10:g.48341149C>G, NC_000023.10:g.48341149C>T, NG_008879.1:g.11601C>A, NG_008879.1:g.11601C>G, NG_008879.1:g.11601C>T, NM_012280.4:c.924C>A, NM_012280.4:c.924C>G, NM_012280.4:c.924C>T, NM_012280.3:c.924C>A, NM_012280.3:c.924C>G, NM_012280.3:c.924C>T, NM_012280.2:c.924C>A, NM_012280.2:c.924C>G, NM_012280.2:c.924C>T, NM_177439.3:c.918C>A, NM_177439.3:c.918C>G, NM_177439.3:c.918C>T, NM_177439.2:c.918C>A, NM_177439.2:c.918C>G, NM_177439.2:c.918C>T, NM_177439.1:c.918C>A, NM_177439.1:c.918C>G, NM_177439.1:c.918C>T, NM_001282157.1:c.513C>A, NM_001282157.1:c.513C>G, NM_001282157.1:c.513C>T, NW_004070880.2:g.722190C>A, NW_004070880.2:g.722190C>G, NW_004070880.2:g.722190C>T, XR_949015.3:n.1209C>A, XR_949015.3:n.1209C>G, XR_949015.3:n.1209C>T, XR_949015.2:n.1238C>A, XR_949015.2:n.1238C>G, XR_949015.2:n.1238C>T, XR_949015.1:n.1342C>A, XR_949015.1:n.1342C>G, XR_949015.1:n.1342C>T, XR_949016.3:n.1209C>A, XR_949016.3:n.1209C>G, XR_949016.3:n.1209C>T, XR_949016.2:n.1238C>A, XR_949016.2:n.1238C>G, XR_949016.2:n.1238C>T, XR_949016.1:n.1342C>A, XR_949016.1:n.1342C>G, XR_949016.1:n.1342C>T, XM_005272595.3:c.918C>A, XM_005272595.3:c.918C>G, XM_005272595.3:c.918C>T, XM_005272595.2:c.918C>A, XM_005272595.2:c.918C>G, XM_005272595.2:c.918C>T, XM_005272595.1:c.918C>A, XM_005272595.1:c.918C>G, XM_005272595.1:c.918C>T, XM_024452359.2:c.924C>A, XM_024452359.2:c.924C>G, XM_024452359.2:c.924C>T, XM_024452359.1:c.924C>A, XM_024452359.1:c.924C>G, XM_024452359.1:c.924C>T, XR_007068186.1:n.1203C>A, XR_007068186.1:n.1203C>G, XR_007068186.1:n.1203C>T, NM_177434.1:c.918C>A, NM_177434.1:c.918C>G, NM_177434.1:c.918C>T, XM_047441943.1:c.924C>A, XM_047441943.1:c.924C>G, XM_047441943.1:c.924C>T, XM_047441945.1:c.918C>A, XM_047441945.1:c.918C>G, XM_047441945.1:c.918C>T, XM_047441942.1:c.924C>A, XM_047441942.1:c.924C>G, XM_047441942.1:c.924C>T, XM_047441944.1:c.918C>A, XM_047441944.1:c.918C>G, XM_047441944.1:c.918C>T

                                    18.

                                    rs1413840474 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:48481675 (GRCh38)
                                      X:48340063 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:48481674:C:T
                                      Gene:
                                      FTSJ1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000043/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000016/3 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1412277636 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        X:48476200 (GRCh38)
                                        X:48334588 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:48476199:T:C
                                        Gene:
                                        FTSJ1 (Varview), LOC124905185 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000026/7 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1404718800 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          X:48476222 (GRCh38)
                                          X:48334610 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:48476221:C:T
                                          Gene:
                                          FTSJ1 (Varview), LOC124905185 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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