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Items: 1 to 20 of 1160

1.

rs1490455398 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:11269734 (GRCh38)
    16:11363591 (GRCh37)
    Canonical SPDI:
    NC_000016.10:11269733:G:A
    Gene:
    TNP2 (Varview), LOC105371082 (Varview)
    Functional Consequence:
    2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000015/4 (TOPMED)
    A=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1489652185 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      16:11269107 (GRCh38)
      16:11362964 (GRCh37)
      Canonical SPDI:
      NC_000016.10:11269106:G:T
      Gene:
      TNP2 (Varview), LOC105371082 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000047/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1489417977 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        16:11269337 (GRCh38)
        16:11363194 (GRCh37)
        Canonical SPDI:
        NC_000016.10:11269336:C:A,NC_000016.10:11269336:C:G
        Gene:
        TNP2 (Varview), LOC105371082 (Varview)
        Functional Consequence:
        2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1488015219 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          16:11269568 (GRCh38)
          16:11363425 (GRCh37)
          Canonical SPDI:
          NC_000016.10:11269567:C:G
          Gene:
          TNP2 (Varview), LOC105371082 (Varview)
          Functional Consequence:
          2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1487908572 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            16:11269050 (GRCh38)
            16:11362907 (GRCh37)
            Canonical SPDI:
            NC_000016.10:11269049:C:G
            Gene:
            TNP2 (Varview), LOC105371082 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1487419140 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:11269791 (GRCh38)
              16:11363648 (GRCh37)
              Canonical SPDI:
              NC_000016.10:11269790:C:T
              Gene:
              TNP2 (Varview), LOC105371082 (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1486143527 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:11268563 (GRCh38)
                16:11362420 (GRCh37)
                Canonical SPDI:
                NC_000016.10:11268562:A:G
                Gene:
                TNP2 (Varview), LOC105371082 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000014/2 (GnomAD)
                G=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1485830114 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  16:11271055 (GRCh38)
                  16:11364912 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:11271054:A:G
                  Gene:
                  TNP2 (Varview), LOC105371082 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1485792535 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:11270673 (GRCh38)
                    16:11364530 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:11270672:G:A
                    Gene:
                    TNP2 (Varview), LOC105371082 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000038/10 (TOPMED)
                    HGVS:
                    10.

                    rs1484511388 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      16:11267357 (GRCh38)
                      16:11361214 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:11267356:C:A
                      Gene:
                      TNP2 (Varview), LOC105371082 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484376450 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        16:11267884 (GRCh38)
                        16:11361741 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:11267883:G:T
                        Gene:
                        TNP2 (Varview), LOC105371082 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1483625532 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          16:11270262 (GRCh38)
                          16:11364119 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:11270261:C:A
                          Gene:
                          TNP2 (Varview), LOC105371082 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1483393530 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:11267479 (GRCh38)
                            16:11361336 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:11267478:A:G
                            Gene:
                            TNP2 (Varview), LOC105371082 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1481741237 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              16:11271172 (GRCh38)
                              16:11365029 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:11271171:G:T
                              Gene:
                              TNP2 (Varview), LOC105371082 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1481660040 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                16:11268766 (GRCh38)
                                16:11362623 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:11268765:T:A
                                Gene:
                                TNP2 (Varview), LOC105371082 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000084/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1481104342 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  16:11268350 (GRCh38)
                                  16:11362207 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:11268349:A:C
                                  Gene:
                                  TNP2 (Varview), LOC105371082 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1480615903 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:11267793 (GRCh38)
                                    16:11361650 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:11267792:G:A
                                    Gene:
                                    TNP2 (Varview), LOC105371082 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000015/4 (TOPMED)
                                    A=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480459781 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      16:11267595 (GRCh38)
                                      16:11361452 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:11267594:C:A
                                      Gene:
                                      TNP2 (Varview), LOC105371082 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480427794 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->TAGCCAGCC [Show Flanks]
                                        Chromosome:
                                        16:11268456 (GRCh38)
                                        16:11362314 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:11268456:CTAGCCAGCC:CTAGCCAGCCTAGCCAGCC
                                        Gene:
                                        TNP2 (Varview), LOC105371082 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CTAGCCAGCCTAGCCAGCC=0./0 (ALFA)
                                        CTAGCCAGC=0.000007/1 (GnomAD)
                                        CTAGCCAGC=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1478860094 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          16:11267983 (GRCh38)
                                          16:11361840 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:11267982:G:C
                                          Gene:
                                          TNP2 (Varview), LOC105371082 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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