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Items: 1 to 20 of 35287

1.

rs1491572198 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AAGGAA [Show Flanks]
    Chromosome:
    6:159980232 (GRCh38)
    6:160401265 (GRCh37)
    Canonical SPDI:
    NC_000006.12:159980232:AA:AAAAGGAA
    Gene:
    IGF2R (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    AAAAGGAA=0./0 (ALFA)
    HGVS:

    2.

    rs1491557937 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      6:160000753 (GRCh38)
      6:160421785 (GRCh37)
      Canonical SPDI:
      NC_000006.12:160000752:TG:
      Gene:
      IGF2R (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.000169/2 (ALFA)
      -=0.000061/8 (GnomAD)
      HGVS:

      3.

      rs1491551736 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>-,GAGA [Show Flanks]
        Chromosome:
        6:159980219 (GRCh38)
        6:160401251 (GRCh37)
        Canonical SPDI:
        NC_000006.12:159980217:AGA:A,NC_000006.12:159980217:AGA:AGAGA
        Gene:
        IGF2R (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.00099/16 (ALFA)
        -=0.00114/95 (GnomAD)
        -=0.0017/1 (NorthernSweden)
        HGVS:

        4.

        rs1491546623 has merged into rs71033567 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA [Show Flanks]
          Chromosome:
          6:159992615 (GRCh38)
          6:160413647 (GRCh37)
          Canonical SPDI:
          NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:159992598:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA
          Gene:
          IGF2R (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CACACACACACACACACA=0./0 (ALFA)
          CACACACACACACA=0.000011/3 (TOPMED)
          -=0.393171/1969 (1000Genomes)
          HGVS:
          NC_000006.12:g.159992599CA[8], NC_000006.12:g.159992599CA[9], NC_000006.12:g.159992599CA[10], NC_000006.12:g.159992599CA[11], NC_000006.12:g.159992599CA[12], NC_000006.12:g.159992599CA[13], NC_000006.12:g.159992599CA[14], NC_000006.12:g.159992599CA[15], NC_000006.12:g.159992599CA[17], NC_000006.12:g.159992599CA[18], NC_000006.12:g.159992599CA[19], NC_000006.12:g.159992599CA[20], NC_000006.12:g.159992599CA[21], NC_000006.12:g.159992599CA[22], NC_000006.12:g.159992599CA[23], NC_000006.11:g.160413631CA[8], NC_000006.11:g.160413631CA[9], NC_000006.11:g.160413631CA[10], NC_000006.11:g.160413631CA[11], NC_000006.11:g.160413631CA[12], NC_000006.11:g.160413631CA[13], NC_000006.11:g.160413631CA[14], NC_000006.11:g.160413631CA[15], NC_000006.11:g.160413631CA[17], NC_000006.11:g.160413631CA[18], NC_000006.11:g.160413631CA[19], NC_000006.11:g.160413631CA[20], NC_000006.11:g.160413631CA[21], NC_000006.11:g.160413631CA[22], NC_000006.11:g.160413631CA[23], NG_011785.4:g.28501CA[8], NG_011785.4:g.28501CA[9], NG_011785.4:g.28501CA[10], NG_011785.4:g.28501CA[11], NG_011785.4:g.28501CA[12], NG_011785.4:g.28501CA[13], NG_011785.4:g.28501CA[14], NG_011785.4:g.28501CA[15], NG_011785.4:g.28501CA[17], NG_011785.4:g.28501CA[18], NG_011785.4:g.28501CA[19], NG_011785.4:g.28501CA[20], NG_011785.4:g.28501CA[21], NG_011785.4:g.28501CA[22], NG_011785.4:g.28501CA[23]

          5.

          rs1491544359 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GGG>-,GGGGG [Show Flanks]
            Chromosome:
            6:160086144 (GRCh38)
            6:160507176 (GRCh37)
            Canonical SPDI:
            NC_000006.12:160086141:GGGGG:GG,NC_000006.12:160086141:GGGGG:GGGGGGG
            Gene:
            IGF2R (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGGGG=0./0 (ALFA)
            HGVS:

            6.

            rs1491530037 has merged into rs374255645 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
              Chromosome:
              6:160044439 (GRCh38)
              6:160465471 (GRCh37)
              Canonical SPDI:
              NC_000006.12:160044432:TTTTTTTTTT:TTTTTT,NC_000006.12:160044432:TTTTTTTTTT:TTTTTTT,NC_000006.12:160044432:TTTTTTTTTT:TTTTTTTT,NC_000006.12:160044432:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:160044432:TTTTTTTTTT:TTTTTTTTTTT
              Gene:
              IGF2R (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTT=0./0 (ALFA)
              T=0.00667/4 (NorthernSweden)
              -=0.02815/141 (1000Genomes)
              HGVS:

              7.

              rs1491524587 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                6:160065776 (GRCh38)
                6:160486808 (GRCh37)
                Canonical SPDI:
                NC_000006.12:160065773:ATAT:AT
                Gene:
                IGF2R (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ATAT=0.000674/11 (ALFA)
                -=0.001179/133 (GnomAD)
                -=0.001249/8 (1000Genomes)
                HGVS:

                8.

                rs1491524059 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GA>-,GAGA [Show Flanks]
                  Chromosome:
                  6:159980231 (GRCh38)
                  6:160401263 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:159980229:AGA:A,NC_000006.12:159980229:AGA:AGAGA
                  Gene:
                  IGF2R (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AGAGA=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491512026 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
                    Chromosome:
                    6:160068063 (GRCh38)
                    6:160489096 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:160068063:G:GTG,NC_000006.12:160068063:G:GTGTG,NC_000006.12:160068063:G:GTGTGTG,NC_000006.12:160068063:G:GTGTGTGTG,NC_000006.12:160068063:G:GTGTGTGTGTG,NC_000006.12:160068063:G:GTGTGTGTGTGTG,NC_000006.12:160068063:G:GTGTGTGTGTGTGTG
                    Gene:
                    IGF2R (Varview), LOC124901451 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GTGTG=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1491507825 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GAAG,GAAGAAAGGAAGAAAGGAAGGAAG,GAAGAAAGGAAGGAAG,GAAGGAAG [Show Flanks]
                      Chromosome:
                      6:159980228 (GRCh38)
                      6:160401261 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:159980228:AAG:AAGGAAG,NC_000006.12:159980228:AAG:AAGGAAGAAAGGAAGAAAGGAAGGAAG,NC_000006.12:159980228:AAG:AAGGAAGAAAGGAAGGAAG,NC_000006.12:159980228:AAG:AAGGAAGGAAG
                      Gene:
                      IGF2R (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAGGAAGGAAG=0.00013/2 (ALFA)
                      AAGGAAGAAAGGAAGAAAGGAAGG=0.0006/10 (TOMMO)
                      AAGGAAGAAAGGAAGAAAGGAAGG=0.00109/2 (Korea1K)
                      HGVS:

                      11.

                      rs1491491247 has merged into rs1554234675 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GA>-,GAGA [Show Flanks]
                        Chromosome:
                        6:159980227 (GRCh38)
                        6:160401259 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:159980225:AGA:A,NC_000006.12:159980225:AGA:AGAGA
                        Gene:
                        IGF2R (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AGAGA=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1491433272 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AG>- [Show Flanks]
                          Chromosome:
                          6:160039705 (GRCh38)
                          6:160460737 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:160039704:AG:
                          Gene:
                          IGF2R (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000014/2 (GnomAD)
                          -=0.000019/5 (TOPMED)
                          HGVS:

                          13.

                          rs1491423774 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            6:160058164 (GRCh38)
                            6:160479197 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:160058164:GGGGG:GGGGGG
                            Gene:
                            IGF2R (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGGGGG=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1491401235 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              6:159975683 (GRCh38)
                              6:160396716 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:159975683::A
                              Gene:
                              IGF2R (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.00058/1 (Korea1K)
                              A=0.008901/57 (1000Genomes)
                              A=0.013058/1556 (GnomAD)
                              HGVS:

                              15.

                              rs1491394454 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TG,TGTG,TGTGTGTGTG,TGTGTGTGTGTG [Show Flanks]
                                Chromosome:
                                6:160068061 (GRCh38)
                                6:160489094 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:160068061:G:GTG,NC_000006.12:160068061:G:GTGTG,NC_000006.12:160068061:G:GTGTGTGTGTG,NC_000006.12:160068061:G:GTGTGTGTGTGTG
                                Gene:
                                IGF2R (Varview), LOC124901451 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GTGTG=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491392610 has merged into rs58646750 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                                  Chromosome:
                                  6:160022026 (GRCh38)
                                  6:160443058 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:160022013:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                                  Gene:
                                  IGF2R (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ACACACACACAC=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  ACACAC=0.261781/1311 (1000Genomes)
                                  HGVS:
                                  NC_000006.12:g.160022014AC[6], NC_000006.12:g.160022014AC[7], NC_000006.12:g.160022014AC[8], NC_000006.12:g.160022014AC[9], NC_000006.12:g.160022014AC[10], NC_000006.12:g.160022014AC[11], NC_000006.12:g.160022014AC[12], NC_000006.12:g.160022014AC[13], NC_000006.12:g.160022014AC[15], NC_000006.12:g.160022014AC[16], NC_000006.12:g.160022014AC[17], NC_000006.12:g.160022014AC[18], NC_000006.12:g.160022014AC[19], NC_000006.12:g.160022014AC[20], NC_000006.12:g.160022014AC[21], NC_000006.12:g.160022014AC[22], NC_000006.12:g.160022014AC[23], NC_000006.12:g.160022014AC[24], NC_000006.12:g.160022014AC[25], NC_000006.12:g.160022014AC[26], NC_000006.12:g.160022014AC[27], NC_000006.12:g.160022014AC[28], NC_000006.12:g.160022014AC[29], NC_000006.12:g.160022014AC[30], NC_000006.12:g.160022014AC[31], NC_000006.12:g.160022014AC[32], NC_000006.12:g.160022014AC[33], NC_000006.11:g.160443046AC[6], NC_000006.11:g.160443046AC[7], NC_000006.11:g.160443046AC[8], NC_000006.11:g.160443046AC[9], NC_000006.11:g.160443046AC[10], NC_000006.11:g.160443046AC[11], NC_000006.11:g.160443046AC[12], NC_000006.11:g.160443046AC[13], NC_000006.11:g.160443046AC[15], NC_000006.11:g.160443046AC[16], NC_000006.11:g.160443046AC[17], NC_000006.11:g.160443046AC[18], NC_000006.11:g.160443046AC[19], NC_000006.11:g.160443046AC[20], NC_000006.11:g.160443046AC[21], NC_000006.11:g.160443046AC[22], NC_000006.11:g.160443046AC[23], NC_000006.11:g.160443046AC[24], NC_000006.11:g.160443046AC[25], NC_000006.11:g.160443046AC[26], NC_000006.11:g.160443046AC[27], NC_000006.11:g.160443046AC[28], NC_000006.11:g.160443046AC[29], NC_000006.11:g.160443046AC[30], NC_000006.11:g.160443046AC[31], NC_000006.11:g.160443046AC[32], NC_000006.11:g.160443046AC[33], NG_011785.4:g.57916AC[6], NG_011785.4:g.57916AC[7], NG_011785.4:g.57916AC[8], NG_011785.4:g.57916AC[9], NG_011785.4:g.57916AC[10], NG_011785.4:g.57916AC[11], NG_011785.4:g.57916AC[12], NG_011785.4:g.57916AC[13], NG_011785.4:g.57916AC[15], NG_011785.4:g.57916AC[16], NG_011785.4:g.57916AC[17], NG_011785.4:g.57916AC[18], NG_011785.4:g.57916AC[19], NG_011785.4:g.57916AC[20], NG_011785.4:g.57916AC[21], NG_011785.4:g.57916AC[22], NG_011785.4:g.57916AC[23], NG_011785.4:g.57916AC[24], NG_011785.4:g.57916AC[25], NG_011785.4:g.57916AC[26], NG_011785.4:g.57916AC[27], NG_011785.4:g.57916AC[28], NG_011785.4:g.57916AC[29], NG_011785.4:g.57916AC[30], NG_011785.4:g.57916AC[31], NG_011785.4:g.57916AC[32], NG_011785.4:g.57916AC[33]

                                  17.

                                  rs1491353550 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->G,GG [Show Flanks]
                                    Chromosome:
                                    6:159980214 (GRCh38)
                                    6:160401247 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:159980214:G:GG,NC_000006.12:159980214:G:GGG
                                    Gene:
                                    IGF2R (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GG=0.000124/2 (ALFA)
                                    GG=0.000004/1 (TOPMED)
                                    G=0.003401/2 (NorthernSweden)
                                    HGVS:

                                    18.

                                    rs1491347674 has merged into rs749224652 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AA>-,A,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAGAAAAGAAAA,AAAAGAAAAGAAAAGAAAA,AAAGAAAA,AAAGAAAAGAAAA,AAAGAAAGAAAAGAAAGAAAAGAAAGAAAAGAAAGAAAA [Show Flanks]
                                      Chromosome:
                                      6:159980229 (GRCh38)
                                      6:160401261 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:159980227:AAA:A,NC_000006.12:159980227:AAA:AA,NC_000006.12:159980227:AAA:AAAA,NC_000006.12:159980227:AAA:AAAAA,NC_000006.12:159980227:AAA:AAAAAAA,NC_000006.12:159980227:AAA:AAAAAAAAA,NC_000006.12:159980227:AAA:AAAAAGAAAAGAAAA,NC_000006.12:159980227:AAA:AAAAAGAAAAGAAAAGAAAA,NC_000006.12:159980227:AAA:AAAAGAAAA,NC_000006.12:159980227:AAA:AAAAGAAAAGAAAA,NC_000006.12:159980227:AAA:AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAAGAAAGAAAA
                                      Gene:
                                      IGF2R (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      AAAAAGAAAAGAAAAGA=0.000004/1 (TOPMED)
                                      AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAAGAAAGA=0.000008/1 (GnomAD)
                                      -=0.000461/13 (TOMMO)
                                      AAAA=0.073355/272 (TWINSUK)
                                      AAAA=0.07862/303 (ALSPAC)
                                      HGVS:
                                      NC_000006.12:g.159980229_159980230del, NC_000006.12:g.159980230del, NC_000006.12:g.159980230dup, NC_000006.12:g.159980229_159980230dup, NC_000006.12:g.159980230_159980231insAAAA, NC_000006.12:g.159980230_159980231insAAAAAA, NC_000006.12:g.159980228_159980230A[5]GAAAA[2], NC_000006.12:g.159980228_159980230A[5]GAAAA[3], NC_000006.12:g.159980228_159980230A[4]GAAAA[1], NC_000006.12:g.159980228_159980230AAAAG[2]A[4], NC_000006.12:g.159980228_159980230AAAAGAAAG[4]A[4], NC_000006.11:g.160401261_160401262del, NC_000006.11:g.160401262del, NC_000006.11:g.160401262dup, NC_000006.11:g.160401261_160401262dup, NC_000006.11:g.160401262_160401263insAAAA, NC_000006.11:g.160401262_160401263insAAAAAA, NC_000006.11:g.160401260_160401262A[5]GAAAA[2], NC_000006.11:g.160401260_160401262A[5]GAAAA[3], NC_000006.11:g.160401260_160401262A[4]GAAAA[1], NC_000006.11:g.160401260_160401262AAAAG[2]A[4], NC_000006.11:g.160401260_160401262AAAAGAAAG[4]A[4], NG_011785.4:g.16131_16132del, NG_011785.4:g.16132del, NG_011785.4:g.16132dup, NG_011785.4:g.16131_16132dup, NG_011785.4:g.16132_16133insAAAA, NG_011785.4:g.16132_16133insAAAAAA, NG_011785.4:g.16130_16132A[5]GAAAA[2], NG_011785.4:g.16130_16132A[5]GAAAA[3], NG_011785.4:g.16130_16132A[4]GAAAA[1], NG_011785.4:g.16130_16132AAAAG[2]A[4], NG_011785.4:g.16130_16132AAAAGAAAG[4]A[4]

                                      19.

                                      rs1491345182 has merged into rs370417751 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        6:160012765 (GRCh38)
                                        6:160433797 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:160012763:TTTTTTTTTTTTTTT:T,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:160012763:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        IGF2R (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTT=0./0 (ALFA)
                                        TTTTTT=0.375/15 (GENOME_DK)
                                        HGVS:
                                        NC_000006.12:g.160012765_160012778del, NC_000006.12:g.160012767_160012778del, NC_000006.12:g.160012769_160012778del, NC_000006.12:g.160012771_160012778del, NC_000006.12:g.160012772_160012778del, NC_000006.12:g.160012773_160012778del, NC_000006.12:g.160012774_160012778del, NC_000006.12:g.160012775_160012778del, NC_000006.12:g.160012776_160012778del, NC_000006.12:g.160012777_160012778del, NC_000006.12:g.160012778del, NC_000006.12:g.160012778dup, NC_000006.12:g.160012777_160012778dup, NC_000006.12:g.160012767_160012778dup, NC_000006.11:g.160433797_160433810del, NC_000006.11:g.160433799_160433810del, NC_000006.11:g.160433801_160433810del, NC_000006.11:g.160433803_160433810del, NC_000006.11:g.160433804_160433810del, NC_000006.11:g.160433805_160433810del, NC_000006.11:g.160433806_160433810del, NC_000006.11:g.160433807_160433810del, NC_000006.11:g.160433808_160433810del, NC_000006.11:g.160433809_160433810del, NC_000006.11:g.160433810del, NC_000006.11:g.160433810dup, NC_000006.11:g.160433809_160433810dup, NC_000006.11:g.160433799_160433810dup, NG_011785.4:g.48667_48680del, NG_011785.4:g.48669_48680del, NG_011785.4:g.48671_48680del, NG_011785.4:g.48673_48680del, NG_011785.4:g.48674_48680del, NG_011785.4:g.48675_48680del, NG_011785.4:g.48676_48680del, NG_011785.4:g.48677_48680del, NG_011785.4:g.48678_48680del, NG_011785.4:g.48679_48680del, NG_011785.4:g.48680del, NG_011785.4:g.48680dup, NG_011785.4:g.48679_48680dup, NG_011785.4:g.48669_48680dup

                                        20.

                                        rs1491343189 has merged into rs1554234621 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GA>-,GAGA [Show Flanks]
                                          Chromosome:
                                          6:159980211 (GRCh38)
                                          6:160401243 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:159980209:AGA:A,NC_000006.12:159980209:AGA:AGAGA
                                          Gene:
                                          IGF2R (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AGAGA=0./0 (ALFA)
                                          HGVS:

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