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Items: 1 to 20 of 8409

1.

rs1491569255 has merged into rs10567765 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTATTTATTTATTTA>-,TTTA,TTTATTTA,TTTATTTATTTA,TTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTATTTATTTATTTA [Show Flanks]
    Chromosome:
    5:37845759 (GRCh38)
    5:37845861 (GRCh37)
    Canonical SPDI:
    NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA
    Gene:
    GDNF-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTATTTATTTATTTATTTA=0./0 (ALFA)
    -=0.13758/689 (1000Genomes)
    HGVS:
    2.

    rs1491255612 has merged into rs59909219 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      5:37843102 (GRCh38)
      5:37843204 (GRCh37)
      Canonical SPDI:
      NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      GDNF-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAA=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.11861/594 (1000Genomes)
      HGVS:
      NC_000005.10:g.37843102_37843110del, NC_000005.10:g.37843106_37843110del, NC_000005.10:g.37843107_37843110del, NC_000005.10:g.37843108_37843110del, NC_000005.10:g.37843109_37843110del, NC_000005.10:g.37843110del, NC_000005.10:g.37843110dup, NC_000005.10:g.37843109_37843110dup, NC_000005.10:g.37843108_37843110dup, NC_000005.10:g.37843107_37843110dup, NC_000005.10:g.37843106_37843110dup, NC_000005.10:g.37843104_37843110dup, NC_000005.9:g.37843204_37843212del, NC_000005.9:g.37843208_37843212del, NC_000005.9:g.37843209_37843212del, NC_000005.9:g.37843210_37843212del, NC_000005.9:g.37843211_37843212del, NC_000005.9:g.37843212del, NC_000005.9:g.37843212dup, NC_000005.9:g.37843211_37843212dup, NC_000005.9:g.37843210_37843212dup, NC_000005.9:g.37843209_37843212dup, NC_000005.9:g.37843208_37843212dup, NC_000005.9:g.37843206_37843212dup, NG_011675.2:g.1582_1590del, NG_011675.2:g.1586_1590del, NG_011675.2:g.1587_1590del, NG_011675.2:g.1588_1590del, NG_011675.2:g.1589_1590del, NG_011675.2:g.1590del, NG_011675.2:g.1590dup, NG_011675.2:g.1589_1590dup, NG_011675.2:g.1588_1590dup, NG_011675.2:g.1587_1590dup, NG_011675.2:g.1586_1590dup, NG_011675.2:g.1584_1590dup
      3.

      rs1491239407 has merged into rs143688572 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
        Chromosome:
        5:37845277 (GRCh38)
        5:37845379 (GRCh37)
        Canonical SPDI:
        NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
        Gene:
        GDNF-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTGTGTGTGTGT=0./0 (ALFA)
        TG=0.07668/384 (1000Genomes)
        HGVS:
        4.

        rs1491235831 has merged into rs35547556 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>-,A,AAA,AAAA [Show Flanks]
          Chromosome:
          5:37853772 (GRCh38)
          5:37853874 (GRCh37)
          Canonical SPDI:
          NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAA,NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAAA,NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAAAAAA
          Gene:
          GDNF-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAA=0./0 (ALFA)
          -=0.038741/165 (1000Genomes)
          A=0.045306/83 (Korea1K)
          A=0.07343/283 (ALSPAC)
          A=0.078479/291 (TWINSUK)
          A=0.08/48 (NorthernSweden)
          A=0.108259/485 (Estonian)
          A=0.125/5 (GENOME_DK)
          A=0.126514/33487 (TOPMED)
          HGVS:
          5.

          rs1491235682 has merged into rs59909219 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            5:37843102 (GRCh38)
            5:37843204 (GRCh37)
            Canonical SPDI:
            NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            GDNF-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAAA=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.11861/594 (1000Genomes)
            HGVS:
            NC_000005.10:g.37843102_37843110del, NC_000005.10:g.37843106_37843110del, NC_000005.10:g.37843107_37843110del, NC_000005.10:g.37843108_37843110del, NC_000005.10:g.37843109_37843110del, NC_000005.10:g.37843110del, NC_000005.10:g.37843110dup, NC_000005.10:g.37843109_37843110dup, NC_000005.10:g.37843108_37843110dup, NC_000005.10:g.37843107_37843110dup, NC_000005.10:g.37843106_37843110dup, NC_000005.10:g.37843104_37843110dup, NC_000005.9:g.37843204_37843212del, NC_000005.9:g.37843208_37843212del, NC_000005.9:g.37843209_37843212del, NC_000005.9:g.37843210_37843212del, NC_000005.9:g.37843211_37843212del, NC_000005.9:g.37843212del, NC_000005.9:g.37843212dup, NC_000005.9:g.37843211_37843212dup, NC_000005.9:g.37843210_37843212dup, NC_000005.9:g.37843209_37843212dup, NC_000005.9:g.37843208_37843212dup, NC_000005.9:g.37843206_37843212dup, NG_011675.2:g.1582_1590del, NG_011675.2:g.1586_1590del, NG_011675.2:g.1587_1590del, NG_011675.2:g.1588_1590del, NG_011675.2:g.1589_1590del, NG_011675.2:g.1590del, NG_011675.2:g.1590dup, NG_011675.2:g.1589_1590dup, NG_011675.2:g.1588_1590dup, NG_011675.2:g.1587_1590dup, NG_011675.2:g.1586_1590dup, NG_011675.2:g.1584_1590dup
            6.

            rs1491182191 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              5:37843091 (GRCh38)
              5:37843194 (GRCh37)
              Canonical SPDI:
              NC_000005.10:37843091::G
              Gene:
              GDNF-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1491178194 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->GTAT,GTATAT [Show Flanks]
                Chromosome:
                5:37874356 (GRCh38)
                5:37874459 (GRCh37)
                Canonical SPDI:
                NC_000005.10:37874356:T:TGTAT,NC_000005.10:37874356:T:TGTATAT
                Gene:
                GDNF-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TGTATAT=0./0 (ALFA)
                TGTATA=0.000009/1 (GnomAD)
                HGVS:
                8.

                rs1491081849 has merged into rs58350618 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>-,AAAA [Show Flanks]
                  Chromosome:
                  5:37857893 (GRCh38)
                  5:37857995 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:37857891:AAA:A,NC_000005.10:37857891:AAA:AAAAA
                  Gene:
                  GDNF-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1491042602 has merged into rs58980044 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GTGT>-,GT,GTGTGT [Show Flanks]
                    Chromosome:
                    5:37874354 (GRCh38)
                    5:37874456 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:37874339:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000005.10:37874339:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:37874339:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
                    Gene:
                    GDNF-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GTGTGTGTGTGTGTGT=0./0 (ALFA)
                    -=0.25/10 (GENOME_DK)
                    -=0.2571/127 (NorthernSweden)
                    HGVS:
                    10.

                    rs1490896065 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:37858381 (GRCh38)
                      5:37858483 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:37858380:C:T
                      Gene:
                      GDNF-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1490879854 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:37872748 (GRCh38)
                        5:37872850 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:37872747:G:A
                        Gene:
                        GDNF-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490785787 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          5:37847528 (GRCh38)
                          5:37847630 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:37847527:A:G
                          Gene:
                          GDNF-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490692819 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            5:37845347 (GRCh38)
                            5:37845449 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:37845346:A:
                            Gene:
                            GDNF-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490621360 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:37846276 (GRCh38)
                              5:37846378 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:37846275:A:G
                              Gene:
                              GDNF-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490530303 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                AGGGTATTATAAGGTTA>- [Show Flanks]
                                Chromosome:
                                5:37844021 (GRCh38)
                                5:37844123 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:37844020:AGGGTATTATAAGGTTA:
                                Gene:
                                GDNF-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490511455 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:37865048 (GRCh38)
                                  5:37865150 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:37865047:T:C
                                  Gene:
                                  GDNF-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490485200 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:37862920 (GRCh38)
                                    5:37863022 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:37862919:G:A
                                    Gene:
                                    GDNF-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490295427 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:37848650 (GRCh38)
                                      5:37848752 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:37848649:A:G
                                      Gene:
                                      GDNF-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490211413 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        5:37851333 (GRCh38)
                                        5:37851435 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:37851332:A:T
                                        Gene:
                                        GDNF-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490195645 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->C [Show Flanks]
                                          Chromosome:
                                          5:37850085 (GRCh38)
                                          5:37850188 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:37850085:C:CC
                                          Gene:
                                          GDNF-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CC=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000023/6 (TOPMED)
                                          HGVS:

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