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Items: 1 to 20 of 26205

1.

rs1491583142 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TT [Show Flanks]
    Chromosome:
    11:126451286 (GRCh38)
    11:126321182 (GRCh37)
    Canonical SPDI:
    NC_000011.10:126451286:T:TTT
    Gene:
    KIRREL3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTT=0./0 (ALFA)
    HGVS:
    2.

    rs1491560025 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CTT [Show Flanks]
      Chromosome:
      11:126417798 (GRCh38)
      11:126287694 (GRCh37)
      Canonical SPDI:
      NC_000011.10:126417798:TT:TTCTT
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTCTT=0.00025/3 (ALFA)
      TTC=0.00022/2 (TOMMO)
      TTC=0.0008/20 (GnomAD)
      HGVS:
      3.

      rs1491548667 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TG>- [Show Flanks]
        Chromosome:
        11:126451309 (GRCh38)
        11:126321204 (GRCh37)
        Canonical SPDI:
        NC_000011.10:126451302:TGTGTGTG:TGTGTG
        Gene:
        KIRREL3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTG=0.000253/3 (ALFA)
        -=0.000374/39 (GnomAD)
        -=0.001093/7 (1000Genomes)
        HGVS:
        4.

        rs1491525139 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TG>-,TGTGTGCGTGTG [Show Flanks]
          Chromosome:
          11:126451357 (GRCh38)
          11:126321252 (GRCh37)
          Canonical SPDI:
          NC_000011.10:126451354:TGTG:TG,NC_000011.10:126451354:TGTG:TGTGTGTGCGTGTG
          Gene:
          KIRREL3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTG=0.0011/13 (ALFA)
          -=0.00004/1 (TOMMO)
          HGVS:
          5.

          rs1491506737 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CCTT,CCTTTCTTTCTTTCTCTCTCTCTCTTCCTTTCTTCCTT [Show Flanks]
            Chromosome:
            11:126446289 (GRCh38)
            11:126316185 (GRCh37)
            Canonical SPDI:
            NC_000011.10:126446289:CTT:CTTCCTT,NC_000011.10:126446289:CTT:CTTCCTTTCTTTCTTTCTCTCTCTCTCTTCCTTTCTTCCTT
            Gene:
            KIRREL3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CTTCCTT=0.00034/4 (ALFA)
            CTTC=0./0 (Korea1K)
            CTTC=0.00018/3 (TOMMO)
            HGVS:
            6.

            rs1491503747 has merged into rs745805898 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              11:126456050 (GRCh38)
              11:126325945 (GRCh37)
              Canonical SPDI:
              NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126456039:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              KIRREL3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTT=0./0 (ALFA)
              -=0.225/9 (GENOME_DK)
              HGVS:
              NC_000011.10:g.126456050_126456057del, NC_000011.10:g.126456051_126456057del, NC_000011.10:g.126456052_126456057del, NC_000011.10:g.126456053_126456057del, NC_000011.10:g.126456054_126456057del, NC_000011.10:g.126456055_126456057del, NC_000011.10:g.126456056_126456057del, NC_000011.10:g.126456057del, NC_000011.10:g.126456057dup, NC_000011.10:g.126456056_126456057dup, NC_000011.10:g.126456055_126456057dup, NC_000011.10:g.126456054_126456057dup, NC_000011.10:g.126456053_126456057dup, NC_000011.10:g.126456052_126456057dup, NC_000011.10:g.126456051_126456057dup, NC_000011.10:g.126456050_126456057dup, NC_000011.10:g.126456049_126456057dup, NC_000011.10:g.126456048_126456057dup, NC_000011.10:g.126456047_126456057dup, NC_000011.10:g.126456046_126456057dup, NC_000011.10:g.126456045_126456057dup, NC_000011.10:g.126456044_126456057dup, NC_000011.10:g.126456043_126456057dup, NC_000011.10:g.126456042_126456057dup, NC_000011.10:g.126456041_126456057dup, NC_000011.10:g.126456057_126456058insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.126456057_126456058insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.126456057_126456058insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.126456057_126456058insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.126456057_126456058insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126325945_126325952del, NC_000011.9:g.126325946_126325952del, NC_000011.9:g.126325947_126325952del, NC_000011.9:g.126325948_126325952del, NC_000011.9:g.126325949_126325952del, NC_000011.9:g.126325950_126325952del, NC_000011.9:g.126325951_126325952del, NC_000011.9:g.126325952del, NC_000011.9:g.126325952dup, NC_000011.9:g.126325951_126325952dup, NC_000011.9:g.126325950_126325952dup, NC_000011.9:g.126325949_126325952dup, NC_000011.9:g.126325948_126325952dup, NC_000011.9:g.126325947_126325952dup, NC_000011.9:g.126325946_126325952dup, NC_000011.9:g.126325945_126325952dup, NC_000011.9:g.126325944_126325952dup, NC_000011.9:g.126325943_126325952dup, NC_000011.9:g.126325942_126325952dup, NC_000011.9:g.126325941_126325952dup, NC_000011.9:g.126325940_126325952dup, NC_000011.9:g.126325939_126325952dup, NC_000011.9:g.126325938_126325952dup, NC_000011.9:g.126325937_126325952dup, NC_000011.9:g.126325936_126325952dup, NC_000011.9:g.126325952_126325953insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126325952_126325953insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126325952_126325953insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126325952_126325953insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126325952_126325953insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012971.2:g.549823_549830del, NG_012971.2:g.549824_549830del, NG_012971.2:g.549825_549830del, NG_012971.2:g.549826_549830del, NG_012971.2:g.549827_549830del, NG_012971.2:g.549828_549830del, NG_012971.2:g.549829_549830del, NG_012971.2:g.549830del, NG_012971.2:g.549830dup, NG_012971.2:g.549829_549830dup, NG_012971.2:g.549828_549830dup, NG_012971.2:g.549827_549830dup, NG_012971.2:g.549826_549830dup, NG_012971.2:g.549825_549830dup, NG_012971.2:g.549824_549830dup, NG_012971.2:g.549823_549830dup, NG_012971.2:g.549822_549830dup, NG_012971.2:g.549821_549830dup, NG_012971.2:g.549820_549830dup, NG_012971.2:g.549819_549830dup, NG_012971.2:g.549818_549830dup, NG_012971.2:g.549817_549830dup, NG_012971.2:g.549816_549830dup, NG_012971.2:g.549815_549830dup, NG_012971.2:g.549814_549830dup, NG_012971.2:g.549830_549831insAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.2:g.549830_549831insAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.2:g.549830_549831insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.2:g.549830_549831insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.2:g.549830_549831insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.549825_549832del, NG_012971.1:g.549826_549832del, NG_012971.1:g.549827_549832del, NG_012971.1:g.549828_549832del, NG_012971.1:g.549829_549832del, NG_012971.1:g.549830_549832del, NG_012971.1:g.549831_549832del, NG_012971.1:g.549832del, NG_012971.1:g.549832dup, NG_012971.1:g.549831_549832dup, NG_012971.1:g.549830_549832dup, NG_012971.1:g.549829_549832dup, NG_012971.1:g.549828_549832dup, NG_012971.1:g.549827_549832dup, NG_012971.1:g.549826_549832dup, NG_012971.1:g.549825_549832dup, NG_012971.1:g.549824_549832dup, NG_012971.1:g.549823_549832dup, NG_012971.1:g.549822_549832dup, NG_012971.1:g.549821_549832dup, NG_012971.1:g.549820_549832dup, NG_012971.1:g.549819_549832dup, NG_012971.1:g.549818_549832dup, NG_012971.1:g.549817_549832dup, NG_012971.1:g.549816_549832dup, NG_012971.1:g.549832_549833insAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.549832_549833insAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.549832_549833insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.549832_549833insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.549832_549833insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053025.1:g.105406_105413del, NG_053025.1:g.105407_105413del, NG_053025.1:g.105408_105413del, NG_053025.1:g.105409_105413del, NG_053025.1:g.105410_105413del, NG_053025.1:g.105411_105413del, NG_053025.1:g.105412_105413del, NG_053025.1:g.105413del, NG_053025.1:g.105413dup, NG_053025.1:g.105412_105413dup, NG_053025.1:g.105411_105413dup, NG_053025.1:g.105410_105413dup, NG_053025.1:g.105409_105413dup, NG_053025.1:g.105408_105413dup, NG_053025.1:g.105407_105413dup, NG_053025.1:g.105406_105413dup, NG_053025.1:g.105405_105413dup, NG_053025.1:g.105404_105413dup, NG_053025.1:g.105403_105413dup, NG_053025.1:g.105402_105413dup, NG_053025.1:g.105401_105413dup, NG_053025.1:g.105400_105413dup, NG_053025.1:g.105399_105413dup, NG_053025.1:g.105398_105413dup, NG_053025.1:g.105397_105413dup, NG_053025.1:g.105413_105414insTTTTTTTTTTTTTTTTTTTTTTT, NG_053025.1:g.105413_105414insTTTTTTTTTTTTTTTTTTTTTTTT, NG_053025.1:g.105413_105414insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053025.1:g.105413_105414insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053025.1:g.105413_105414insTTTTTTTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1491477161 has merged into rs1413722994 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TG>-,TGTG [Show Flanks]
                Chromosome:
                11:126451291 (GRCh38)
                11:126321186 (GRCh37)
                Canonical SPDI:
                NC_000011.10:126451285:GTGTGTG:GTGTG,NC_000011.10:126451285:GTGTGTG:GTGTGTGTG
                Gene:
                KIRREL3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GTGTGTGTG=0./0 (ALFA)
                -=0.000029/3 (GnomAD)
                -=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1491468527 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  11:126451354 (GRCh38)
                  11:126321249 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:126451352:TAT:T
                  Gene:
                  KIRREL3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  -=0.000024/3 (GnomAD)
                  HGVS:
                  9.

                  rs1491455163 has merged into rs59203608 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                    Chromosome:
                    11:126368158 (GRCh38)
                    11:126238053 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:126368146:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:126368146:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:126368146:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:126368146:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:126368146:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:126368146:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:126368146:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                    Gene:
                    ST3GAL4 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAA=0./0 (ALFA)
                    A=0.35/14 (GENOME_DK)
                    HGVS:
                    10.

                    rs1491417090 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CATGTGTGTGCG [Show Flanks]
                      Chromosome:
                      11:126451355 (GRCh38)
                      11:126321251 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:126451355:G:GCATGTGTGTGCG
                      Gene:
                      KIRREL3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GCATGTGTGTGCG=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491395570 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        11:126370595 (GRCh38)
                        11:126240490 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:126370590:CTCTCT:CTCT
                        Gene:
                        ST3GAL4 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CTCT=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1491394520 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          11:126448279 (GRCh38)
                          11:126318174 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:126448278:CA:
                          Gene:
                          KIRREL3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0.0016/19 (ALFA)
                          HGVS:
                          13.

                          rs1491379436 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TC>- [Show Flanks]
                            Chromosome:
                            11:126456057 (GRCh38)
                            11:126325952 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:126456056:TC:
                            Gene:
                            KIRREL3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491358464 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              11:126417783 (GRCh38)
                              11:126287678 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:126417781:TCT:T
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491337143 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CG>- [Show Flanks]
                                Chromosome:
                                11:126391936 (GRCh38)
                                11:126261831 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:126391935:CG:
                                Gene:
                                ST3GAL4 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.000337/4 (ALFA)
                                -=0.001664/174 (GnomAD)
                                HGVS:
                                16.

                                rs1491335675 has merged into rs55787866 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  11:126448292 (GRCh38)
                                  11:126318187 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  KIRREL3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAA=0./0 (ALFA)
                                  HGVS:
                                  NC_000011.10:g.126448292_126448301del, NC_000011.10:g.126448294_126448301del, NC_000011.10:g.126448295_126448301del, NC_000011.10:g.126448296_126448301del, NC_000011.10:g.126448297_126448301del, NC_000011.10:g.126448298_126448301del, NC_000011.10:g.126448299_126448301del, NC_000011.10:g.126448300_126448301del, NC_000011.10:g.126448301del, NC_000011.10:g.126448301dup, NC_000011.10:g.126448300_126448301dup, NC_000011.10:g.126448299_126448301dup, NC_000011.10:g.126448298_126448301dup, NC_000011.10:g.126448297_126448301dup, NC_000011.10:g.126448296_126448301dup, NC_000011.10:g.126448295_126448301dup, NC_000011.10:g.126448294_126448301dup, NC_000011.10:g.126448293_126448301dup, NC_000011.10:g.126448292_126448301dup, NC_000011.10:g.126448291_126448301dup, NC_000011.10:g.126448290_126448301dup, NC_000011.10:g.126448289_126448301dup, NC_000011.10:g.126448288_126448301dup, NC_000011.10:g.126448287_126448301dup, NC_000011.10:g.126448286_126448301dup, NC_000011.10:g.126448285_126448301dup, NC_000011.10:g.126448284_126448301dup, NC_000011.10:g.126448283_126448301dup, NC_000011.10:g.126448282_126448301dup, NC_000011.10:g.126448281_126448301dup, NC_000011.10:g.126448301_126448302insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.126318187_126318196del, NC_000011.9:g.126318189_126318196del, NC_000011.9:g.126318190_126318196del, NC_000011.9:g.126318191_126318196del, NC_000011.9:g.126318192_126318196del, NC_000011.9:g.126318193_126318196del, NC_000011.9:g.126318194_126318196del, NC_000011.9:g.126318195_126318196del, NC_000011.9:g.126318196del, NC_000011.9:g.126318196dup, NC_000011.9:g.126318195_126318196dup, NC_000011.9:g.126318194_126318196dup, NC_000011.9:g.126318193_126318196dup, NC_000011.9:g.126318192_126318196dup, NC_000011.9:g.126318191_126318196dup, NC_000011.9:g.126318190_126318196dup, NC_000011.9:g.126318189_126318196dup, NC_000011.9:g.126318188_126318196dup, NC_000011.9:g.126318187_126318196dup, NC_000011.9:g.126318186_126318196dup, NC_000011.9:g.126318185_126318196dup, NC_000011.9:g.126318184_126318196dup, NC_000011.9:g.126318183_126318196dup, NC_000011.9:g.126318182_126318196dup, NC_000011.9:g.126318181_126318196dup, NC_000011.9:g.126318180_126318196dup, NC_000011.9:g.126318179_126318196dup, NC_000011.9:g.126318178_126318196dup, NC_000011.9:g.126318177_126318196dup, NC_000011.9:g.126318176_126318196dup, NC_000011.9:g.126318196_126318197insAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.2:g.557581_557590del, NG_012971.2:g.557583_557590del, NG_012971.2:g.557584_557590del, NG_012971.2:g.557585_557590del, NG_012971.2:g.557586_557590del, NG_012971.2:g.557587_557590del, NG_012971.2:g.557588_557590del, NG_012971.2:g.557589_557590del, NG_012971.2:g.557590del, NG_012971.2:g.557590dup, NG_012971.2:g.557589_557590dup, NG_012971.2:g.557588_557590dup, NG_012971.2:g.557587_557590dup, NG_012971.2:g.557586_557590dup, NG_012971.2:g.557585_557590dup, NG_012971.2:g.557584_557590dup, NG_012971.2:g.557583_557590dup, NG_012971.2:g.557582_557590dup, NG_012971.2:g.557581_557590dup, NG_012971.2:g.557580_557590dup, NG_012971.2:g.557579_557590dup, NG_012971.2:g.557578_557590dup, NG_012971.2:g.557577_557590dup, NG_012971.2:g.557576_557590dup, NG_012971.2:g.557575_557590dup, NG_012971.2:g.557574_557590dup, NG_012971.2:g.557573_557590dup, NG_012971.2:g.557572_557590dup, NG_012971.2:g.557571_557590dup, NG_012971.2:g.557570_557590dup, NG_012971.2:g.557590_557591insTTTTTTTTTTTTTTTTTTTTTTTT, NG_012971.1:g.557583_557592del, NG_012971.1:g.557585_557592del, NG_012971.1:g.557586_557592del, NG_012971.1:g.557587_557592del, NG_012971.1:g.557588_557592del, NG_012971.1:g.557589_557592del, NG_012971.1:g.557590_557592del, NG_012971.1:g.557591_557592del, NG_012971.1:g.557592del, NG_012971.1:g.557592dup, NG_012971.1:g.557591_557592dup, NG_012971.1:g.557590_557592dup, NG_012971.1:g.557589_557592dup, NG_012971.1:g.557588_557592dup, NG_012971.1:g.557587_557592dup, NG_012971.1:g.557586_557592dup, NG_012971.1:g.557585_557592dup, NG_012971.1:g.557584_557592dup, NG_012971.1:g.557583_557592dup, NG_012971.1:g.557582_557592dup, NG_012971.1:g.557581_557592dup, NG_012971.1:g.557580_557592dup, NG_012971.1:g.557579_557592dup, NG_012971.1:g.557578_557592dup, NG_012971.1:g.557577_557592dup, NG_012971.1:g.557576_557592dup, NG_012971.1:g.557575_557592dup, NG_012971.1:g.557574_557592dup, NG_012971.1:g.557573_557592dup, NG_012971.1:g.557572_557592dup, NG_012971.1:g.557592_557593insTTTTTTTTTTTTTTTTTTTTTTTT, NG_053025.1:g.97648_97657del, NG_053025.1:g.97650_97657del, NG_053025.1:g.97651_97657del, NG_053025.1:g.97652_97657del, NG_053025.1:g.97653_97657del, NG_053025.1:g.97654_97657del, NG_053025.1:g.97655_97657del, NG_053025.1:g.97656_97657del, NG_053025.1:g.97657del, NG_053025.1:g.97657dup, NG_053025.1:g.97656_97657dup, NG_053025.1:g.97655_97657dup, NG_053025.1:g.97654_97657dup, NG_053025.1:g.97653_97657dup, NG_053025.1:g.97652_97657dup, NG_053025.1:g.97651_97657dup, NG_053025.1:g.97650_97657dup, NG_053025.1:g.97649_97657dup, NG_053025.1:g.97648_97657dup, NG_053025.1:g.97647_97657dup, NG_053025.1:g.97646_97657dup, NG_053025.1:g.97645_97657dup, NG_053025.1:g.97644_97657dup, NG_053025.1:g.97643_97657dup, NG_053025.1:g.97642_97657dup, NG_053025.1:g.97641_97657dup, NG_053025.1:g.97640_97657dup, NG_053025.1:g.97639_97657dup, NG_053025.1:g.97638_97657dup, NG_053025.1:g.97637_97657dup, NG_053025.1:g.97657_97658insAAAAAAAAAAAAAAAAAAAAAAAA
                                  17.

                                  rs1491330773 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    11:126368147 (GRCh38)
                                    11:126238043 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:126368147::C
                                    Gene:
                                    ST3GAL4 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1491318924 has merged into rs56820180 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      11:126446163 (GRCh38)
                                      11:126316058 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:126446148:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      KIRREL3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAAAA=0./0 (ALFA)
                                      -=0.375/15 (GENOME_DK)
                                      HGVS:
                                      NC_000011.10:g.126446163_126446170del, NC_000011.10:g.126446164_126446170del, NC_000011.10:g.126446167_126446170del, NC_000011.10:g.126446168_126446170del, NC_000011.10:g.126446169_126446170del, NC_000011.10:g.126446170del, NC_000011.10:g.126446170dup, NC_000011.10:g.126446169_126446170dup, NC_000011.10:g.126446168_126446170dup, NC_000011.10:g.126446167_126446170dup, NC_000011.10:g.126446166_126446170dup, NC_000011.10:g.126446165_126446170dup, NC_000011.10:g.126446161_126446170dup, NC_000011.10:g.126446153_126446170dup, NC_000011.10:g.126446149_126446170dup, NC_000011.9:g.126316058_126316065del, NC_000011.9:g.126316059_126316065del, NC_000011.9:g.126316062_126316065del, NC_000011.9:g.126316063_126316065del, NC_000011.9:g.126316064_126316065del, NC_000011.9:g.126316065del, NC_000011.9:g.126316065dup, NC_000011.9:g.126316064_126316065dup, NC_000011.9:g.126316063_126316065dup, NC_000011.9:g.126316062_126316065dup, NC_000011.9:g.126316061_126316065dup, NC_000011.9:g.126316060_126316065dup, NC_000011.9:g.126316056_126316065dup, NC_000011.9:g.126316048_126316065dup, NC_000011.9:g.126316044_126316065dup, NG_012971.2:g.559714_559721del, NG_012971.2:g.559715_559721del, NG_012971.2:g.559718_559721del, NG_012971.2:g.559719_559721del, NG_012971.2:g.559720_559721del, NG_012971.2:g.559721del, NG_012971.2:g.559721dup, NG_012971.2:g.559720_559721dup, NG_012971.2:g.559719_559721dup, NG_012971.2:g.559718_559721dup, NG_012971.2:g.559717_559721dup, NG_012971.2:g.559716_559721dup, NG_012971.2:g.559712_559721dup, NG_012971.2:g.559704_559721dup, NG_012971.2:g.559700_559721dup, NG_012971.1:g.559716_559723del, NG_012971.1:g.559717_559723del, NG_012971.1:g.559720_559723del, NG_012971.1:g.559721_559723del, NG_012971.1:g.559722_559723del, NG_012971.1:g.559723del, NG_012971.1:g.559723dup, NG_012971.1:g.559722_559723dup, NG_012971.1:g.559721_559723dup, NG_012971.1:g.559720_559723dup, NG_012971.1:g.559719_559723dup, NG_012971.1:g.559718_559723dup, NG_012971.1:g.559714_559723dup, NG_012971.1:g.559706_559723dup, NG_012971.1:g.559702_559723dup, NG_053025.1:g.95519_95526del, NG_053025.1:g.95520_95526del, NG_053025.1:g.95523_95526del, NG_053025.1:g.95524_95526del, NG_053025.1:g.95525_95526del, NG_053025.1:g.95526del, NG_053025.1:g.95526dup, NG_053025.1:g.95525_95526dup, NG_053025.1:g.95524_95526dup, NG_053025.1:g.95523_95526dup, NG_053025.1:g.95522_95526dup, NG_053025.1:g.95521_95526dup, NG_053025.1:g.95517_95526dup, NG_053025.1:g.95509_95526dup, NG_053025.1:g.95505_95526dup
                                      19.

                                      rs1491306964 has merged into rs533344841 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CT>-,CTCT [Show Flanks]
                                        Chromosome:
                                        11:126457359 (GRCh38)
                                        11:126327254 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:126457355:TCTCT:TCT,NC_000011.10:126457355:TCTCT:TCTCTCT
                                        Gene:
                                        KIRREL3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TCTCTCT=0./0 (ALFA)
                                        -=0./0 (ALSPAC)
                                        -=0.00027/1 (TWINSUK)
                                        -=0.003/15 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1491255688 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AG>- [Show Flanks]
                                          Chromosome:
                                          11:126420016 (GRCh38)
                                          11:126289911 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:126420015:AG:
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000021/3 (GnomAD)
                                          -=0.000023/6 (TOPMED)
                                          HGVS:

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