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Links from Nucleotide

Items: 1 to 20 of 607

1.

rs1487830947 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:217937540 (GRCh38)
    2:218802263 (GRCh37)
    Canonical SPDI:
    NC_000002.12:217937539:G:A
    Gene:
    TNS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1487612143 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      2:217937114 (GRCh38)
      2:218801837 (GRCh37)
      Canonical SPDI:
      NC_000002.12:217937113:G:T
      Gene:
      TNS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1486630300 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:217938862 (GRCh38)
        2:218803585 (GRCh37)
        Canonical SPDI:
        NC_000002.12:217938861:G:A
        Gene:
        TNS1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000034/9 (TOPMED)
        A=0.000036/5 (GnomAD)
        HGVS:
        4.

        rs1481661166 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:217937270 (GRCh38)
          2:218801993 (GRCh37)
          Canonical SPDI:
          NC_000002.12:217937269:C:T
          Gene:
          TNS1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000015/4 (TOPMED)
          T=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1480677403 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:217938246 (GRCh38)
            2:218802969 (GRCh37)
            Canonical SPDI:
            NC_000002.12:217938245:A:G
            Gene:
            TNS1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,upstream_transcript_variant,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:
            6.

            rs1477942227 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:217938758 (GRCh38)
              2:218803481 (GRCh37)
              Canonical SPDI:
              NC_000002.12:217938757:T:C
              Gene:
              TNS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000019/5 (TOPMED)
              C=0.000342/1 (KOREAN)
              C=0.001092/2 (Korea1K)
              C=0.001416/24 (TOMMO)
              HGVS:
              7.

              rs1477888106 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                2:217937535 (GRCh38)
                2:218802258 (GRCh37)
                Canonical SPDI:
                NC_000002.12:217937534:A:C
                Gene:
                TNS1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1477626113 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:217938415 (GRCh38)
                  2:218803138 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:217938414:G:A
                  Gene:
                  TNS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1475180430 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:217938905 (GRCh38)
                    2:218803628 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:217938904:T:C
                    Gene:
                    TNS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1473487315 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:217937451 (GRCh38)
                      2:218802174 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:217937450:G:T
                      Gene:
                      TNS1 (Varview)
                      Functional Consequence:
                      intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1470713875 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:217937357 (GRCh38)
                        2:218802080 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:217937356:C:T
                        Gene:
                        TNS1 (Varview)
                        Functional Consequence:
                        intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1468105343 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:217938242 (GRCh38)
                          2:218802965 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:217938241:C:T
                          Gene:
                          TNS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1467589735 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            2:217938101 (GRCh38)
                            2:218802824 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:217938100:C:G
                            Gene:
                            TNS1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1465685830 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:217937628 (GRCh38)
                              2:218802351 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:217937627:T:C
                              Gene:
                              TNS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1464491039 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:217937783 (GRCh38)
                                2:218802506 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:217937782:G:C
                                Gene:
                                TNS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1461940929 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:217936946 (GRCh38)
                                  2:218801669 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:217936945:G:T
                                  Gene:
                                  TNS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1461449778 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:217938709 (GRCh38)
                                    2:218803432 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:217938708:G:A
                                    Gene:
                                    TNS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1458123908 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:217936931 (GRCh38)
                                      2:218801654 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:217936930:T:C
                                      Gene:
                                      TNS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000007/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1455529145 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:217938332 (GRCh38)
                                        2:218803055 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:217938331:G:A
                                        Gene:
                                        TNS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000142/2 (ALFA)
                                        A=0.000026/7 (TOPMED)
                                        A=0.00005/7 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1455464151 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:217936952 (GRCh38)
                                          2:218801675 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:217936951:C:T
                                          Gene:
                                          TNS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_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)
                                          T=0.000029/4 (GnomAD_exomes)
                                          HGVS:

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