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Links from Gene

Items: 1 to 20 of 1019

1.

rs1490044093 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    X:73214040 (GRCh38)
    X:72433876 (GRCh37)
    Canonical SPDI:
    NC_000023.11:73214039:T:A
    Gene:
    NAP1L2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.0002/1 (ALFA)
    HGVS:
    2.

    rs1489377440 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:73216750 (GRCh38)
      X:72436586 (GRCh37)
      Canonical SPDI:
      NC_000023.11:73216749:G:A
      Gene:
      NAP1L2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1488813430 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        X:73216660 (GRCh38)
        X:72436496 (GRCh37)
        Canonical SPDI:
        NC_000023.11:73216659:G:A,NC_000023.11:73216659:G:C
        Gene:
        NAP1L2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1488398613 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          X:73214441 (GRCh38)
          X:72434277 (GRCh37)
          Canonical SPDI:
          NC_000023.11:73214440:C:A
          Gene:
          NAP1L2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000223/2 (ALFA)
          A=0.000005/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487071111 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:73213336 (GRCh38)
            X:72433172 (GRCh37)
            Canonical SPDI:
            NC_000023.11:73213335:C:T
            Gene:
            NAP1L2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000005/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1486807435 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:73214058 (GRCh38)
              X:72433894 (GRCh37)
              Canonical SPDI:
              NC_000023.11:73214057:T:C
              Gene:
              NAP1L2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.00001/1 (GnomAD)
              HGVS:
              7.

              rs1486302436 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                X:73211987 (GRCh38)
                X:72431823 (GRCh37)
                Canonical SPDI:
                NC_000023.11:73211986:T:G
                Gene:
                NAP1L2 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000019/5 (TOPMED)
                G=0.000038/4 (GnomAD)
                HGVS:
                8.

                rs1485801325 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  X:73213470 (GRCh38)
                  X:72433306 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:73213469:G:C
                  Gene:
                  NAP1L2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485117343 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:73214334 (GRCh38)
                    X:72434170 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:73214333:A:G
                    Gene:
                    NAP1L2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000005/1 (GnomAD_exomes)
                    G=0.00001/1 (GnomAD)
                    G=0.000023/6 (TOPMED)
                    HGVS:
                    10.

                    rs1485036037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      X:73216631 (GRCh38)
                      X:72436467 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:73216630:T:G
                      Gene:
                      NAP1L2 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_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.

                      rs1484580205 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:73213735 (GRCh38)
                        X:72433571 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:73213734:G:A
                        Gene:
                        NAP1L2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1484333865 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:73215233 (GRCh38)
                          X:72435069 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:73215232:G:A
                          Gene:
                          NAP1L2 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1483811089 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:73212337 (GRCh38)
                            X:72432173 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:73212336:A:G
                            Gene:
                            NAP1L2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000066/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1482073725 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:73215099 (GRCh38)
                              X:72434935 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:73215098:T:C
                              Gene:
                              NAP1L2 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1481230648 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                X:73215667 (GRCh38)
                                X:72435503 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:73215666:G:C
                                Gene:
                                NAP1L2 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.00001/1 (GnomAD)
                                C=0.000019/5 (TOPMED)
                                HGVS:
                                16.

                                rs1481016130 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:73214229 (GRCh38)
                                  X:72434065 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:73214228:T:C
                                  Gene:
                                  NAP1L2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000087/2 (ALFA)
                                  C=0.000011/2 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1480109790 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:73213863 (GRCh38)
                                    X:72433699 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:73213862:A:G
                                    Gene:
                                    NAP1L2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1480081750 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      X:73212287 (GRCh38)
                                      X:72432123 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:73212286:A:G
                                      Gene:
                                      NAP1L2 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.00001/1 (GnomAD)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480030002 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        X:73216642 (GRCh38)
                                        X:72436478 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:73216641:G:T
                                        Gene:
                                        NAP1L2 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.0002/1 (ALFA)
                                        HGVS:
                                        20.

                                        rs1478878940 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:73216874 (GRCh38)
                                          X:72436710 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:73216873:T:C
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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