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Links from Nucleotide

Items: 1 to 20 of 150

1.

rs1488538193 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    4:73508979 (GRCh38)
    4:74374696 (GRCh37)
    Canonical SPDI:
    NC_000004.12:73508978:AA:
    Gene:
    LINC02499 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000021/3 (GnomAD)
    -=0.000023/6 (TOPMED)
    HGVS:
    2.

    rs1488054656 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AGA>- [Show Flanks]
      Chromosome:
      4:73509195 (GRCh38)
      4:74374912 (GRCh37)
      Canonical SPDI:
      NC_000004.12:73509189:GAAGAAGA:GAAGA
      Gene:
      LINC02499 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAAGA=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      -=0.000008/2 (TOPMED)
      -=0.000142/2 (TOMMO)
      HGVS:
      3.

      rs1479614629 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        4:73509690 (GRCh38)
        4:74375407 (GRCh37)
        Canonical SPDI:
        NC_000004.12:73509689:C:A
        Gene:
        LINC02499 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1470808646 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:73510263 (GRCh38)
          4:74375980 (GRCh37)
          Canonical SPDI:
          NC_000004.12:73510262:A:G
          Gene:
          LINC02499 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1468646403 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            4:73528493 (GRCh38)
            4:74394210 (GRCh37)
            Canonical SPDI:
            NC_000004.12:73528492:T:G
            Gene:
            LINC02499 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1460159487 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:73528461 (GRCh38)
              4:74394178 (GRCh37)
              Canonical SPDI:
              NC_000004.12:73528460:T:C
              Gene:
              LINC02499 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000036/5 (GnomAD)
              C=0.000038/10 (TOPMED)
              HGVS:
              7.

              rs1454219903 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:73508958 (GRCh38)
                4:74374675 (GRCh37)
                Canonical SPDI:
                NC_000004.12:73508957:A:G
                Gene:
                LINC02499 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000042/11 (TOPMED)
                G=0.000064/9 (GnomAD)
                HGVS:
                8.

                rs1446040697 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  4:73528531 (GRCh38)
                  4:74394248 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:73528530:G:A,NC_000004.12:73528530:G:C
                  Gene:
                  LINC02499 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000021/3 (GnomAD)
                  C=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1445508993 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:73508865 (GRCh38)
                    4:74374582 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:73508864:G:A
                    Gene:
                    LINC02499 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1442838557 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:73510216 (GRCh38)
                      4:74375933 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:73510215:G:A
                      Gene:
                      LINC02499 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1441474981 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GGAGG [Show Flanks]
                        Chromosome:
                        4:73509198 (GRCh38)
                        4:74374916 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:73509198:GGAGG:GGAGGGGAGG
                        Gene:
                        LINC02499 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGAGGGGAGG=0.000071/1 (ALFA)
                        GGAGG=0.000007/1 (GnomAD)
                        GGAGG=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1433985227 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          4:73510327 (GRCh38)
                          4:74376044 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:73510326:A:C
                          Gene:
                          LINC02499 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1432367687 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:73509000 (GRCh38)
                            4:74374717 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:73508999:A:G
                            Gene:
                            LINC02499 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1427154042 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:73508848 (GRCh38)
                              4:74374565 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:73508847:A:G
                              Gene:
                              LINC02499 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1426794937 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                4:73509138 (GRCh38)
                                4:74374855 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:73509137:C:G
                                Gene:
                                LINC02499 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1426775303 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CAAACCACAGTTA>- [Show Flanks]
                                  Chromosome:
                                  4:73510255 (GRCh38)
                                  4:74375972 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:73510252:TACAAACCACAGTTA:TA
                                  Gene:
                                  LINC02499 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1426073602 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    4:73510225 (GRCh38)
                                    4:74375942 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:73510224:T:C
                                    Gene:
                                    LINC02499 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000066/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1409275993 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      4:73509124 (GRCh38)
                                      4:74374841 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:73509123:T:C,NC_000004.12:73509123:T:G
                                      Gene:
                                      LINC02499 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      C=0.000106/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1408033004 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        4:73510244 (GRCh38)
                                        4:74375961 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:73510243:A:G,NC_000004.12:73510243:A:T
                                        Gene:
                                        LINC02499 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1406798870 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:73509227 (GRCh38)
                                          4:74374944 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:73509226:G:A
                                          Gene:
                                          LINC02499 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          A=0.001667/1 (NorthernSweden)
                                          HGVS:

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