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Links from Gene

Items: 1 to 20 of 2144

1.

rs1490769747 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:95862370 (GRCh38)
    12:96256148 (GRCh37)
    Canonical SPDI:
    NC_000012.12:95862369:G:A
    Gene:
    SNRPF (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490754805 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:95861056 (GRCh38)
      12:96254834 (GRCh37)
      Canonical SPDI:
      NC_000012.12:95861055:G:A
      Gene:
      SNRPF (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489952876 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        12:95862899 (GRCh38)
        12:96256677 (GRCh37)
        Canonical SPDI:
        NC_000012.12:95862898:C:G
        Gene:
        SNRPF (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488667131 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          12:95858947 (GRCh38)
          12:96252725 (GRCh37)
          Canonical SPDI:
          NC_000012.12:95858946:T:G
          Gene:
          SNRPF (Varview), SNRPF-DT (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:
          5.

          rs1488186513 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            12:95861874 (GRCh38)
            12:96255652 (GRCh37)
            Canonical SPDI:
            NC_000012.12:95861873:G:T
            Gene:
            SNRPF (Varview)
            Functional Consequence:
            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:
            6.

            rs1487779555 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              12:95864192 (GRCh38)
              12:96257970 (GRCh37)
              Canonical SPDI:
              NC_000012.12:95864191:A:G,NC_000012.12:95864191:A:T
              Gene:
              SNRPF (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1486690351 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:95866786 (GRCh38)
                12:96260564 (GRCh37)
                Canonical SPDI:
                NC_000012.12:95866785:A:G
                Gene:
                CCDC38 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.00005/7 (GnomAD)
                G=0.000121/32 (TOPMED)
                HGVS:
                8.

                rs1486417312 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:95866102 (GRCh38)
                  12:96259880 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:95866101:A:G
                  Gene:
                  SNRPF (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1486415184 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    12:95860789 (GRCh38)
                    12:96254567 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:95860788:A:T
                    Gene:
                    SNRPF (Varview), SNRPF-DT (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1486212904 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      12:95857992 (GRCh38)
                      12:96251770 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:95857991:A:G
                      Gene:
                      SNRPF (Varview), SNRPF-DT (Varview)
                      Functional Consequence:
                      intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_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:
                      11.

                      rs1486028522 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        12:95858265 (GRCh38)
                        12:96252043 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:95858264:C:A,NC_000012.12:95858264:C:T
                        Gene:
                        SNRPF (Varview), SNRPF-DT (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1485593485 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          12:95859739 (GRCh38)
                          12:96253517 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:95859738:C:A,NC_000012.12:95859738:C:G,NC_000012.12:95859738:C:T
                          Gene:
                          SNRPF (Varview), SNRPF-DT (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1485061109 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:95858602 (GRCh38)
                            12:96252380 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:95858601:A:G
                            Gene:
                            SNRPF (Varview), SNRPF-DT (Varview)
                            Functional Consequence:
                            intron_variant,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:
                            14.

                            rs1484454134 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:95859880 (GRCh38)
                              12:96253658 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:95859879:A:G
                              Gene:
                              SNRPF (Varview), SNRPF-DT (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1484358303 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                12:95865107 (GRCh38)
                                12:96258885 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:95865106:T:G
                                Gene:
                                SNRPF (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1484249728 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  12:95857109 (GRCh38)
                                  12:96250887 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:95857108:C:G
                                  Gene:
                                  SNRPF (Varview), SNRPF-DT (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484226508 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:95864042 (GRCh38)
                                    12:96257820 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:95864041:T:C
                                    Gene:
                                    SNRPF (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483733563 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:95860411 (GRCh38)
                                      12:96254189 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:95860410:T:C
                                      Gene:
                                      SNRPF (Varview), SNRPF-DT (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000142/2 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483327721 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        12:95864694 (GRCh38)
                                        12:96258472 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:95864693:C:A,NC_000012.12:95864693:C:T
                                        Gene:
                                        SNRPF (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1483217262 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          12:95863893 (GRCh38)
                                          12:96257671 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:95863892:G:A,NC_000012.12:95863892:G:T
                                          Gene:
                                          SNRPF (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          G=0.5/1 (SGDP_PRJ)
                                          HGVS:

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