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Links from Nucleotide

Items: 1 to 20 of 1434

1.

rs1491533833 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    4:82424442 (GRCh38)
    4:83345595 (GRCh37)
    Canonical SPDI:
    NC_000004.12:82424441:TG:
    Gene:
    HNRNPDL (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000064/9 (GnomAD)
    -=0.000076/20 (TOPMED)
    HGVS:
    2.

    rs1491368528 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      4:82423776 (GRCh38)
      4:83344929 (GRCh37)
      Canonical SPDI:
      NC_000004.12:82423775:CA:
      Gene:
      HNRNPDL (Varview)
      Functional Consequence:
      3_prime_UTR_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000011/3 (TOPMED)
      -=0.000022/3 (GnomAD)
      HGVS:
      3.

      rs1491320376 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        4:82423776 (GRCh38)
        4:83344930 (GRCh37)
        Canonical SPDI:
        NC_000004.12:82423776:A:AA
        Gene:
        HNRNPDL (Varview)
        Functional Consequence:
        3_prime_UTR_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AA=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.00003/8 (TOPMED)
        HGVS:
        4.

        rs1491280832 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          4:82424442 (GRCh38)
          4:83345596 (GRCh37)
          Canonical SPDI:
          NC_000004.12:82424442:G:GG
          Gene:
          HNRNPDL (Varview)
          Functional Consequence:
          3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GG=0./0 (ALFA)
          G=0.000083/22 (TOPMED)
          G=0.0001/14 (GnomAD)
          HGVS:
          5.

          rs1490848042 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            4:82424063 (GRCh38)
            4:83345216 (GRCh37)
            Canonical SPDI:
            NC_000004.12:82424062:C:G,NC_000004.12:82424062:C:T
            Gene:
            HNRNPDL (Varview)
            Functional Consequence:
            3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490409649 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:82424398 (GRCh38)
              4:83345551 (GRCh37)
              Canonical SPDI:
              NC_000004.12:82424397:C:T
              Gene:
              HNRNPDL (Varview)
              Functional Consequence:
              3_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488760990 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:82423270 (GRCh38)
                4:83344423 (GRCh37)
                Canonical SPDI:
                NC_000004.12:82423269:G:A
                Gene:
                HNRNPDL (Varview)
                Functional Consequence:
                3_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000069/1 (ALFA)
                A=0.000029/4 (GnomAD)
                A=0.000045/12 (TOPMED)
                HGVS:
                8.

                rs1488114408 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:82423764 (GRCh38)
                  4:83344917 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:82423763:A:G
                  Gene:
                  HNRNPDL (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1487439247 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    4:82424143 (GRCh38)
                    4:83345296 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:82424142:C:G
                    Gene:
                    HNRNPDL (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000023/6 (TOPMED)
                    G=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1487311006 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:82423552 (GRCh38)
                      4:83344705 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:82423551:A:G
                      Gene:
                      HNRNPDL (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1487023564 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        4:82424447 (GRCh38)
                        4:83345600 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:82424446:C:A
                        Gene:
                        HNRNPDL (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000019/5 (TOPMED)
                        A=0.000036/5 (GnomAD)
                        HGVS:
                        12.

                        rs1485429338 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TCTTGATAGTAGCTTCAGTTCATCCAACCTAGGACACTTAGCCTTAGA>- [Show Flanks]
                          Chromosome:
                          4:82422946 (GRCh38)
                          4:83344099 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:82422942:AGATCTTGATAGTAGCTTCAGTTCATCCAACCTAGGACACTTAGCCTTAGA:AGA
                          Gene:
                          HNRNPDL (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AGA=0./0 (ALFA)
                          -=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1485363183 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:82423022 (GRCh38)
                            4:83344175 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:82423021:G:A
                            Gene:
                            HNRNPDL (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1485138725 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:82423813 (GRCh38)
                              4:83344966 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:82423812:A:G
                              Gene:
                              HNRNPDL (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/1 (GnomAD)
                              HGVS:
                              15.

                              rs1484381165 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TT>- [Show Flanks]
                                Chromosome:
                                4:82422742 (GRCh38)
                                4:83343895 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:82422740:TTT:T
                                Gene:
                                HNRNPDL (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1484279022 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TCC [Show Flanks]
                                  Chromosome:
                                  4:82427217 (GRCh38)
                                  4:83348371 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:82427217:TCC:TCCTCC
                                  Gene:
                                  HNRNPDL (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TCCTCC=0./0 (ALFA)
                                  TCC=0.000004/1 (TOPMED)
                                  TCC=0.00002/5 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1484048338 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    4:82429448 (GRCh38)
                                    4:83350601 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:82429447:C:G
                                    Gene:
                                    HNRNPDL (Varview), ENOPH1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0./0 (GnomAD)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1483076968 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:82423602 (GRCh38)
                                      4:83344755 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:82423601:C:T
                                      Gene:
                                      HNRNPDL (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000023/6 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482643390 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CGCGCGGGCCAAGGG>- [Show Flanks]
                                        Chromosome:
                                        4:82430156 (GRCh38)
                                        4:83351309 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:82430152:GGGCGCGCGGGCCAAGGG:GGG
                                        Gene:
                                        HNRNPDL (Varview), ENOPH1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GGG=0./0 (ALFA)
                                        -=0.000019/5 (TOPMED)
                                        -=0.000029/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482521451 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          4:82430167 (GRCh38)
                                          4:83351320 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:82430166:A:G
                                          Gene:
                                          HNRNPDL (Varview), ENOPH1 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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