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Links from Gene

Items: 1 to 20 of 1811

1.

rs1491048791 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    X:120112426 (GRCh38)
    X:119246355 (GRCh37)
    Canonical SPDI:
    NC_000023.11:120112425:AA:
    Gene:
    RHOXF1 (Varview), RHOXF1-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00041/9 (TOMMO)
    HGVS:
    2.

    rs1490849108 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:120109865 (GRCh38)
      X:119243823 (GRCh37)
      Canonical SPDI:
      NC_000023.11:120109864:G:A
      Gene:
      RHOXF1 (Varview), RHOXF1-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.00001/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1490236377 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        X:120118625 (GRCh38)
        X:119252535 (GRCh37)
        Canonical SPDI:
        NC_000023.11:120118624:T:A
        Gene:
        RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1489992835 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:120110079 (GRCh38)
          X:119244037 (GRCh37)
          Canonical SPDI:
          NC_000023.11:120110078:G:A
          Gene:
          RHOXF1 (Varview), RHOXF1-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489865248 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:120108806 (GRCh38)
            X:119242764 (GRCh37)
            Canonical SPDI:
            NC_000023.11:120108805:C:T
            Gene:
            RHOXF1 (Varview), RHOXF1-AS1 (Varview)
            Functional Consequence:
            intron_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            T=0.00003/3 (GnomAD)
            T=0.000045/1 (TOMMO)
            HGVS:
            6.

            rs1489173807 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              X:120112531 (GRCh38)
              X:119246441 (GRCh37)
              Canonical SPDI:
              NC_000023.11:120112530:T:A
              Gene:
              RHOXF1 (Varview), RHOXF1-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.00008/1 (ALFA)
              A=0.00001/1 (GnomAD)
              A=0.00005/1 (TOMMO)
              T=0.5/1 (SGDP_PRJ)
              HGVS:
              7.

              rs1489066903 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                X:120116517 (GRCh38)
                X:119250427 (GRCh37)
                Canonical SPDI:
                NC_000023.11:120116516:C:G,NC_000023.11:120116516:C:T
                Gene:
                RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                G=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1488995667 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:120117920 (GRCh38)
                  X:119251830 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:120117919:T:C
                  Gene:
                  RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488917409 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    X:120112448 (GRCh38)
                    X:119246372 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:120112446:ATA:A
                    Gene:
                    RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1488003731 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      X:120112058 (GRCh38)
                      X:119246016 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:120112057:A:G
                      Gene:
                      RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      G=0.000019/2 (GnomAD)
                      HGVS:
                      11.

                      rs1486997620 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        X:120110545 (GRCh38)
                        X:119244503 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:120110544:A:C
                        Gene:
                        RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000011/3 (TOPMED)
                        C=0.000019/2 (GnomAD)
                        HGVS:
                        12.

                        rs1486521634 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          X:120111812 (GRCh38)
                          X:119245770 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:120111811:C:G
                          Gene:
                          RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1485805377 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            X:120117728 (GRCh38)
                            X:119251638 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:120117727:G:A,NC_000023.11:120117727:G:C
                            Gene:
                            RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.00001/1 (GnomAD)
                            C=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1485737666 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:120119436 (GRCh38)
                              X:119253346 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:120119435:G:A
                              Gene:
                              RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000015/4 (TOPMED)
                              A=0.000048/5 (GnomAD)
                              HGVS:
                              15.

                              rs1485683781 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                X:120114087 (GRCh38)
                                X:119247997 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:120114086:G:C
                                Gene:
                                RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1484736633 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  X:120112731 (GRCh38)
                                  X:119246641 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:120112730:T:G
                                  Gene:
                                  RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000023/6 (TOPMED)
                                  G=0.000029/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1484612375 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:120109245 (GRCh38)
                                    X:119243203 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:120109244:C:T
                                    Gene:
                                    RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484221529 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      X:120116663 (GRCh38)
                                      X:119250573 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:120116662:A:T
                                      Gene:
                                      RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1483513959 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->AG [Show Flanks]
                                        Chromosome:
                                        X:120117400 (GRCh38)
                                        X:119251311 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:120117400:G:GAG
                                        Gene:
                                        RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GAG=0./0 (ALFA)
                                        GA=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482626350 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          X:120116868 (GRCh38)
                                          X:119250778 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:120116867:C:T
                                          Gene:
                                          RHOXF1 (Varview), RHOXF1-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000019/2 (GnomAD)
                                          T=0.000023/6 (TOPMED)
                                          HGVS:

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