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Items: 1 to 20 of 1000

1.

rs1491493506 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    18:1294198 (GRCh38)
    18:1294200 (GRCh37)
    Canonical SPDI:
    NC_000018.10:1294198::G
    Gene:
    LINC00470 (Varview)
    Functional Consequence:
    intron_variant
    HGVS:
    2.

    rs1491432696 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      18:1284028 (GRCh38)
      18:1284029 (GRCh37)
      Canonical SPDI:
      NC_000018.10:1284027:GA:
      Gene:
      LINC00470 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491431938 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        18:1294143 (GRCh38)
        18:1294144 (GRCh37)
        Canonical SPDI:
        NC_000018.10:1294142:AT:
        Gene:
        LINC00470 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00051/6 (ALFA)
        -=0.00008/4 (GnomAD)
        HGVS:
        4.

        rs1491376082 has merged into rs1055810895 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AGAG>-,AGAGAG [Show Flanks]
          Chromosome:
          18:1334859 (GRCh38)
          18:1334860 (GRCh37)
          Canonical SPDI:
          NC_000018.10:1334851:GAGAGAGAGAG:GAGAGAG,NC_000018.10:1334851:GAGAGAGAGAG:GAGAGAGAGAGAG
          Gene:
          LINC00470 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GAGAGAGAGAGAG=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1491373783 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            18:1294199 (GRCh38)
            18:1294200 (GRCh37)
            Canonical SPDI:
            NC_000018.10:1294197:TTT:T
            Gene:
            LINC00470 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.00012/2 (ALFA)
            -=0.00014/4 (TOMMO)
            HGVS:
            6.

            rs1491311346 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              18:1286806 (GRCh38)
              18:1286808 (GRCh37)
              Canonical SPDI:
              NC_000018.10:1286806:C:CC
              Gene:
              LINC00470 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              CC=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1491225337 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TA>-,TATA [Show Flanks]
                Chromosome:
                18:1347171 (GRCh38)
                18:1347172 (GRCh37)
                Canonical SPDI:
                NC_000018.10:1347169:ATA:A,NC_000018.10:1347169:ATA:ATATA
                Gene:
                LINC00470 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.004531/74 (ALFA)
                -=0.000814/14 (TOMMO)
                -=0.002515/348 (GnomAD)
                -=0.006667/4 (NorthernSweden)
                -=0.011463/21 (Korea1K)
                -=0.059871/222 (TWINSUK)
                -=0.0685/264 (ALSPAC)
                HGVS:
                8.

                rs1491169750 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TG>- [Show Flanks]
                  Chromosome:
                  18:1334851 (GRCh38)
                  18:1334852 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:1334850:TG:
                  Gene:
                  LINC00470 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1491154925 has merged into rs4036865 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA [Show Flanks]
                    Chromosome:
                    18:1347159 (GRCh38)
                    18:1347160 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000018.10:1347145:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA
                    Gene:
                    LINC00470 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ACACACACACACACACACA=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491134302 has merged into rs59879202 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                      Chromosome:
                      18:1284044 (GRCh38)
                      18:1284045 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000018.10:1284028:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                      Gene:
                      LINC00470 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ACACACACACACACACACA=0./0 (ALFA)
                      -=0.0345/173 (1000Genomes)
                      HGVS:
                      NC_000018.10:g.1284030CA[7], NC_000018.10:g.1284030CA[8], NC_000018.10:g.1284030CA[9], NC_000018.10:g.1284030CA[10], NC_000018.10:g.1284030CA[11], NC_000018.10:g.1284030CA[12], NC_000018.10:g.1284030CA[13], NC_000018.10:g.1284030CA[14], NC_000018.10:g.1284030CA[15], NC_000018.10:g.1284030CA[16], NC_000018.10:g.1284030CA[17], NC_000018.10:g.1284030CA[18], NC_000018.10:g.1284030CA[19], NC_000018.10:g.1284030CA[20], NC_000018.10:g.1284030CA[22], NC_000018.10:g.1284030CA[23], NC_000018.10:g.1284030CA[24], NC_000018.10:g.1284030CA[25], NC_000018.10:g.1284030CA[26], NC_000018.10:g.1284030CA[27], NC_000018.10:g.1284030CA[28], NC_000018.10:g.1284030CA[29], NC_000018.10:g.1284030CA[30], NC_000018.10:g.1284030CA[31], NC_000018.10:g.1284030CA[37], NC_000018.10:g.1284030CA[38], NC_000018.9:g.1284031CA[7], NC_000018.9:g.1284031CA[8], NC_000018.9:g.1284031CA[9], NC_000018.9:g.1284031CA[10], NC_000018.9:g.1284031CA[11], NC_000018.9:g.1284031CA[12], NC_000018.9:g.1284031CA[13], NC_000018.9:g.1284031CA[14], NC_000018.9:g.1284031CA[15], NC_000018.9:g.1284031CA[16], NC_000018.9:g.1284031CA[17], NC_000018.9:g.1284031CA[18], NC_000018.9:g.1284031CA[19], NC_000018.9:g.1284031CA[20], NC_000018.9:g.1284031CA[22], NC_000018.9:g.1284031CA[23], NC_000018.9:g.1284031CA[24], NC_000018.9:g.1284031CA[25], NC_000018.9:g.1284031CA[26], NC_000018.9:g.1284031CA[27], NC_000018.9:g.1284031CA[28], NC_000018.9:g.1284031CA[29], NC_000018.9:g.1284031CA[30], NC_000018.9:g.1284031CA[31], NC_000018.9:g.1284031CA[37], NC_000018.9:g.1284031CA[38]
                      11.

                      rs1491103768 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->ATGTGTGTGTGT,ATGTGTGTGTGTGT [Show Flanks]
                        Chromosome:
                        18:1294143 (GRCh38)
                        18:1294145 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:1294143:T:TATGTGTGTGTGT,NC_000018.10:1294143:T:TATGTGTGTGTGTGT
                        Gene:
                        LINC00470 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TATGTGTGTGTGTGT=0./0 (ALFA)
                        TATGTGTGTGTGTG=0.000004/1 (TOPMED)
                        TATGTGTGTGTG=0.000032/3 (GnomAD)
                        HGVS:
                        12.

                        rs1491044317 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          A>-,AA [Show Flanks]
                          Chromosome:
                          18:1288645 (GRCh38)
                          18:1288646 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:1288644:AAAAAAA:AAAAAA,NC_000018.10:1288644:AAAAAAA:AAAAAAAA
                          Gene:
                          LINC00470 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAA=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1491023578 has merged into rs34611604 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                            Chromosome:
                            18:1328085 (GRCh38)
                            18:1328086 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:1328073:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                            Gene:
                            LINC00470 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAA=0./0 (ALFA)
                            A=0.4075/2041 (1000Genomes)
                            A=0.475/19 (GENOME_DK)
                            HGVS:
                            14.

                            rs1491015764 has merged into rs141216352 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
                              Chromosome:
                              18:1274014 (GRCh38)
                              18:1274015 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000018.10:1274000:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG
                              Gene:
                              LINC00470 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
                              -=0.00855/38 (1000Genomes)
                              GT=0.02333/14 (NorthernSweden)
                              GT=0.025/1 (GENOME_DK)
                              HGVS:
                              15.

                              rs1490977135 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                T>A
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1490962334 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  18:1301638 (GRCh38)
                                  18:1301639 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:1301637:A:G
                                  Gene:
                                  LINC00470 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490942442 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:1302047 (GRCh38)
                                    18:1302048 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:1302046:A:G
                                    Gene:
                                    LINC00470 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490936249 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      18:1340859 (GRCh38)
                                      18:1340860 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:1340858:A:G
                                      Gene:
                                      LINC00470 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490925801 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        18:1330044 (GRCh38)
                                        18:1330045 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:1330043:A:G
                                        Gene:
                                        LINC00470 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1490910608 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          18:1328826 (GRCh38)
                                          18:1328827 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:1328825:G:A
                                          Gene:
                                          LINC00470 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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