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Links from Gene

Items: 1 to 20 of 7612

1.

rs1491485154 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    8:73309627 (GRCh38)
    8:74221863 (GRCh37)
    Canonical SPDI:
    NC_000008.11:73309627:C:CC
    Gene:
    RDH10 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CC=0.000187/3 (ALFA)
    C=0.002526/298 (GnomAD)
    HGVS:
    2.

    rs1491248075 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      8:73294262 (GRCh38)
      8:74206498 (GRCh37)
      Canonical SPDI:
      NC_000008.11:73294262:A:AA
      Gene:
      RPL7 (Varview), RDH10 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AA=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491238812 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GTTTT,GTTTTTGTTTT [Show Flanks]
        Chromosome:
        8:73320476 (GRCh38)
        8:74232712 (GRCh37)
        Canonical SPDI:
        NC_000008.11:73320476:TTTT:TTTTGTTTT,NC_000008.11:73320476:TTTT:TTTTGTTTTTGTTTT
        Gene:
        RDH10 (Varview), RDH10-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTTGTTTTTGTTTT=0./0 (ALFA)
        HGVS:
        4.

        rs1491105406 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TC>- [Show Flanks]
          Chromosome:
          8:73309627 (GRCh38)
          8:74221862 (GRCh37)
          Canonical SPDI:
          NC_000008.11:73309626:TC:
          Gene:
          RDH10 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491001750 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:73300946 (GRCh38)
            8:74213181 (GRCh37)
            Canonical SPDI:
            NC_000008.11:73300945:A:G
            Gene:
            RDH10 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000019/5 (TOPMED)
            G=0.000684/2 (KOREAN)
            HGVS:
            6.

            rs1490978074 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              8:73317623 (GRCh38)
              8:74229858 (GRCh37)
              Canonical SPDI:
              NC_000008.11:73317622:A:G,NC_000008.11:73317622:A:T
              Gene:
              RDH10 (Varview), RDH10-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1490831411 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:73294269 (GRCh38)
                8:74206504 (GRCh37)
                Canonical SPDI:
                NC_000008.11:73294268:A:G
                Gene:
                RPL7 (Varview), RDH10 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490671345 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  8:73294007 (GRCh38)
                  8:74206242 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:73294006:G:A,NC_000008.11:73294006:G:C,NC_000008.11:73294006:G:T
                  Gene:
                  RPL7 (Varview), RDH10 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490655576 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    8:73293460 (GRCh38)
                    8:74205695 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:73293459:C:G
                    Gene:
                    RPL7 (Varview), RDH10 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1490556879 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      8:73309028 (GRCh38)
                      8:74221263 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:73309027:A:G
                      Gene:
                      RDH10 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490398487 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GT>- [Show Flanks]
                        Chromosome:
                        8:73300097 (GRCh38)
                        8:74212332 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:73300095:TGT:T
                        Gene:
                        RDH10 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490271177 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          8:73325275 (GRCh38)
                          8:74237510 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:73325274:C:A,NC_000008.11:73325274:C:T
                          Gene:
                          RDH10 (Varview), RDH10-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000026/7 (TOPMED)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1489976322 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            8:73300107 (GRCh38)
                            8:74212342 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:73300106:A:T
                            Gene:
                            RDH10 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489925067 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              8:73317870 (GRCh38)
                              8:74230105 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:73317869:T:G
                              Gene:
                              RDH10 (Varview), RDH10-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1489858095 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:73301424 (GRCh38)
                                8:74213659 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:73301423:G:A
                                Gene:
                                RDH10 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.0002/1 (ALFA)
                                A=0.0002/1 (Estonian)
                                HGVS:
                                16.

                                rs1489838980 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TAA>- [Show Flanks]
                                  Chromosome:
                                  8:73293181 (GRCh38)
                                  8:74205416 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:73293178:AATAA:AA
                                  Gene:
                                  RPL7 (Varview), RDH10 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  AA=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489635984 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    8:73315512 (GRCh38)
                                    8:74227747 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:73315511:C:A,NC_000008.11:73315511:C:T
                                    Gene:
                                    RDH10 (Varview), RDH10-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489632595 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      8:73308608 (GRCh38)
                                      8:74220843 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:73308607:C:A,NC_000008.11:73308607:C:G
                                      Gene:
                                      RDH10 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489597706 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:73303894 (GRCh38)
                                        8:74216129 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:73303893:A:G
                                        Gene:
                                        RDH10 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489565183 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          8:73319561 (GRCh38)
                                          8:74231796 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:73319560:C:T
                                          Gene:
                                          RDH10 (Varview), RDH10-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:

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