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Links from Gene

Items: 1 to 20 of 574

1.

rs1491163157 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    8:54330917 (GRCh38)
    8:55243477 (GRCh37)
    Canonical SPDI:
    NC_000008.11:54330915:ACA:A
    Gene:
    RNU105C (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000084/1 (ALFA)
    -=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1491123266 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      8:54330916 (GRCh38)
      8:55243477 (GRCh37)
      Canonical SPDI:
      NC_000008.11:54330916::T
      Gene:
      RNU105C (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000015/2 (GnomAD)
      HGVS:
      3.

      rs1490614849 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        8:54329852 (GRCh38)
        8:55242412 (GRCh37)
        Canonical SPDI:
        NC_000008.11:54329851:A:G
        Gene:
        RNU105C (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489911084 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:54331127 (GRCh38)
          8:55243687 (GRCh37)
          Canonical SPDI:
          NC_000008.11:54331126:T:C
          Gene:
          RNU105C (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489112122 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            8:54331115 (GRCh38)
            8:55243675 (GRCh37)
            Canonical SPDI:
            NC_000008.11:54331114:A:C,NC_000008.11:54331114:A:T
            Gene:
            RNU105C (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1486834733 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:54329024 (GRCh38)
              8:55241584 (GRCh37)
              Canonical SPDI:
              NC_000008.11:54329023:A:G
              Gene:
              RNU105C (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1486555663 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                8:54330282 (GRCh38)
                8:55242842 (GRCh37)
                Canonical SPDI:
                NC_000008.11:54330281:T:C
                Gene:
                RNU105C (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                HGVS:
                8.

                rs1485947349 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  8:54330072 (GRCh38)
                  8:55242632 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:54330071:C:A
                  Gene:
                  RNU105C (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1483472646 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:54330989 (GRCh38)
                    8:55243549 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:54330988:G:A
                    Gene:
                    RNU105C (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1482749708 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:54328914 (GRCh38)
                      8:55241474 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:54328913:G:A
                      Gene:
                      RNU105C (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1480980560 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:54329985 (GRCh38)
                        8:55242545 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:54329984:C:T
                        Gene:
                        RNU105C (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1480327009 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          8:54330869 (GRCh38)
                          8:55243429 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:54330868:G:A,NC_000008.11:54330868:G:T
                          Gene:
                          RNU105C (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1480315916 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            8:54331213 (GRCh38)
                            8:55243773 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:54331212:G:T
                            Gene:
                            RNU105C (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1479982969 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              8:54331208 (GRCh38)
                              8:55243768 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:54331207:T:A
                              Gene:
                              RNU105C (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000142/2 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1479481959 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                8:54329994 (GRCh38)
                                8:55242555 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:54329994::C
                                Gene:
                                RNU105C (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1479344988 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:54330473 (GRCh38)
                                  8:55243033 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:54330472:A:G
                                  Gene:
                                  RNU105C (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1472151731 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    8:54329425 (GRCh38)
                                    8:55241985 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:54329424:A:G
                                    Gene:
                                    RNU105C (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1470611032 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      8:54330110 (GRCh38)
                                      8:55242670 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:54330109:A:T
                                      Gene:
                                      RNU105C (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1466938577 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        8:54330490 (GRCh38)
                                        8:55243050 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:54330489:T:A,NC_000008.11:54330489:T:C
                                        Gene:
                                        RNU105C (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000132/2 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000223/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1463080822 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          8:54329292 (GRCh38)
                                          8:55241852 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:54329291:T:A
                                          Gene:
                                          RNU105C (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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