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Links from Nucleotide

Items: 1 to 20 of 105

1.

rs1488393145 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:15470474 (GRCh38)
    17:15373788 (GRCh37)
    Canonical SPDI:
    NC_000017.11:15470473:C:T
    Gene:
    CDRT3 (Varview), TVP23C-CDRT4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1483019211 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      17:15470544 (GRCh38)
      17:15373858 (GRCh37)
      Canonical SPDI:
      NC_000017.11:15470543:G:A,NC_000017.11:15470543:G:T
      Gene:
      CDRT3 (Varview), TVP23C-CDRT4 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1478662724 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        17:15470758 (GRCh38)
        17:15374072 (GRCh37)
        Canonical SPDI:
        NC_000017.11:15470757:T:G
        Gene:
        CDRT3 (Varview), TVP23C-CDRT4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1465433729 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:15470323 (GRCh38)
          17:15373637 (GRCh37)
          Canonical SPDI:
          NC_000017.11:15470322:C:T
          Gene:
          CDRT3 (Varview), TVP23C-CDRT4 (Varview)
          Functional Consequence:
          non_coding_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:
          5.

          rs1462398811 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:15470358 (GRCh38)
            17:15373672 (GRCh37)
            Canonical SPDI:
            NC_000017.11:15470357:C:T
            Gene:
            CDRT3 (Varview), TVP23C-CDRT4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1451459065 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:15470786 (GRCh38)
              17:15374100 (GRCh37)
              Canonical SPDI:
              NC_000017.11:15470785:G:A
              Gene:
              CDRT3 (Varview), TVP23C-CDRT4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1446019680 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                17:15470506 (GRCh38)
                17:15373820 (GRCh37)
                Canonical SPDI:
                NC_000017.11:15470505:A:C,NC_000017.11:15470505:A:G
                Gene:
                CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                G=0.00018/3 (TOMMO)
                G=0.00137/4 (KOREAN)
                HGVS:
                8.

                rs1441088032 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  17:15470531 (GRCh38)
                  17:15373845 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:15470530:A:C
                  Gene:
                  CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1433938189 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,T [Show Flanks]
                    Chromosome:
                    17:15470827 (GRCh38)
                    17:15374141 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:15470826:A:C,NC_000017.11:15470826:A:T
                    Gene:
                    CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1432742431 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:15470656 (GRCh38)
                      17:15373970 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:15470655:A:G
                      Gene:
                      CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000015/4 (TOPMED)
                      G=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1430361477 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:15470473 (GRCh38)
                        17:15373787 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:15470472:C:T
                        Gene:
                        CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1428638668 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:15470345 (GRCh38)
                          17:15373659 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:15470344:G:A
                          Gene:
                          CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1407979434 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:15470316 (GRCh38)
                            17:15373630 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:15470315:G:A
                            Gene:
                            CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1406222755 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:15470693 (GRCh38)
                              17:15374007 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:15470692:C:T
                              Gene:
                              CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_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=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1403185555 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAT>- [Show Flanks]
                                Chromosome:
                                17:15470716 (GRCh38)
                                17:15374030 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:15470712:AATAAT:AAT
                                Gene:
                                CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AATAAT=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1390963970 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  17:15470623 (GRCh38)
                                  17:15373937 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:15470622:A:T
                                  Gene:
                                  CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1385537655 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    17:15470517 (GRCh38)
                                    17:15373831 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:15470516:G:T
                                    Gene:
                                    CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1375916148 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      17:15470326 (GRCh38)
                                      17:15373640 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:15470325:T:G
                                      Gene:
                                      CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1349788324 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:15470673 (GRCh38)
                                        17:15373987 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:15470672:C:T
                                        Gene:
                                        CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1349491626 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:15470630 (GRCh38)
                                          17:15373944 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:15470629:G:A
                                          Gene:
                                          CDRT3 (Varview), TVP23C-CDRT4 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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