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Items: 1 to 20 of 4068

1.

rs1491169501 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    17:35439053 (GRCh38)
    17:33766073 (GRCh37)
    Canonical SPDI:
    NC_000017.11:35439053:T:TT
    Gene:
    SLFN13 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    TT=0./0 (ALFA)
    T=0.00004/1 (TOMMO)
    HGVS:

    2.

    rs1491150250 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      17:35439057 (GRCh38)
      17:33766077 (GRCh37)
      Canonical SPDI:
      NC_000017.11:35439057::C
      Gene:
      SLFN13 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1490954826 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        17:35438617 (GRCh38)
        17:33765636 (GRCh37)
        Canonical SPDI:
        NC_000017.11:35438616:T:G
        Gene:
        SLFN13 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000015/4 (TOPMED)
        HGVS:

        4.

        rs1490628846 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          17:35435766 (GRCh38)
          17:33762785 (GRCh37)
          Canonical SPDI:
          NC_000017.11:35435765:A:T
          Gene:
          SLFN13 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:

          5.

          rs1490539710 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:35450724 (GRCh38)
            17:33777743 (GRCh37)
            Canonical SPDI:
            NC_000017.11:35450723:A:G
            Gene:
            SLFN13 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000015/4 (TOPMED)
            G=0.000061/6 (GnomAD)
            HGVS:

            6.

            rs1490463158 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              17:35439517 (GRCh38)
              17:33766536 (GRCh37)
              Canonical SPDI:
              NC_000017.11:35439516:G:A,NC_000017.11:35439516:G:C
              Gene:
              SLFN13 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              A=0.000035/1 (TOMMO)
              C=0.000342/1 (KOREAN)
              C=0.000546/1 (Korea1K)
              HGVS:
              NC_000017.11:g.35439517G>A, NC_000017.11:g.35439517G>C, NC_000017.10:g.33766536G>A, NC_000017.10:g.33766536G>C, NM_144682.6:c.*1078C>T, NM_144682.6:c.*1078C>G, NM_144682.5:c.*1078C>T, NM_144682.5:c.*1078C>G, XM_005257922.3:c.*1078C>T, XM_005257922.3:c.*1078C>G, XM_005257922.2:c.*1078C>T, XM_005257922.2:c.*1078C>G, XM_005257922.1:c.*1078C>T, XM_005257922.1:c.*1078C>G, XM_011524383.3:c.*1078C>T, XM_011524383.3:c.*1078C>G, XM_011524383.2:c.*1078C>T, XM_011524383.2:c.*1078C>G, XM_011524383.1:c.*1078C>T, XM_011524383.1:c.*1078C>G, XM_024450614.2:c.*1078C>T, XM_024450614.2:c.*1078C>G, XM_024450614.1:c.*1078C>T, XM_024450614.1:c.*1078C>G, XM_017024233.2:c.*1078C>T, XM_017024233.2:c.*1078C>G, XM_017024233.1:c.*1078C>T, XM_017024233.1:c.*1078C>G, XM_047435461.1:c.*1078C>T, XM_047435461.1:c.*1078C>G, XM_047435462.1:c.*1078C>T, XM_047435462.1:c.*1078C>G, XM_047435465.1:c.*1078C>T, XM_047435465.1:c.*1078C>G, XM_047435460.1:c.*1078C>T, XM_047435460.1:c.*1078C>G, XM_047435464.1:c.*1078C>T, XM_047435464.1:c.*1078C>G, XM_047435463.1:c.*1078C>T, XM_047435463.1:c.*1078C>G, XM_047435467.1:c.*1078C>T, XM_047435467.1:c.*1078C>G, XM_047435468.1:c.*1078C>T, XM_047435468.1:c.*1078C>G

              7.

              rs1490345675 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:35437628 (GRCh38)
                17:33764647 (GRCh37)
                Canonical SPDI:
                NC_000017.11:35437627:C:T
                Gene:
                SLFN13 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1490181231 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:35445673 (GRCh38)
                  17:33772692 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:35445672:G:A
                  Gene:
                  SLFN13 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1489835195 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    17:35450353 (GRCh38)
                    17:33777372 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:35450352:A:C,NC_000017.11:35450352:A:G
                    Gene:
                    SLFN13 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1489805210 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TT>- [Show Flanks]
                      Chromosome:
                      17:35436302 (GRCh38)
                      17:33763321 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:35436297:TTTTTT:TTTT
                      Gene:
                      SLFN13 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTT=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      -=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1489333822 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:35443083 (GRCh38)
                        17:33770102 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:35443082:C:T
                        Gene:
                        SLFN13 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:

                        12.

                        rs1489327352 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          17:35450190 (GRCh38)
                          17:33777209 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:35450189:A:T
                          Gene:
                          SLFN13 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000023/6 (TOPMED)
                          HGVS:

                          13.

                          rs1488977701 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:35443932 (GRCh38)
                            17:33770951 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:35443931:A:G
                            Gene:
                            SLFN13 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1488801964 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              17:35440562 (GRCh38)
                              17:33767581 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:35440561:T:C
                              Gene:
                              SLFN13 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1488740576 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:35443250 (GRCh38)
                                17:33770269 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:35443249:G:A
                                Gene:
                                SLFN13 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1488677633 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:35444041 (GRCh38)
                                  17:33771060 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:35444040:T:C
                                  Gene:
                                  SLFN13 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1488263360 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    17:35434877 (GRCh38)
                                    17:33761896 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:35434876:A:C
                                    Gene:
                                    SLFN12 (Varview), SLFN13 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000009/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1488090015 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:35442990 (GRCh38)
                                      17:33770009 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:35442989:G:A
                                      Gene:
                                      SLFN13 (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:

                                      19.

                                      rs1487884085 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        C>G
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:

                                        20.

                                        rs1487869880 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:35443496 (GRCh38)
                                          17:33770515 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:35443495:A:G
                                          Gene:
                                          SLFN13 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000029/4 (GnomAD)
                                          HGVS:

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