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Items: 1 to 20 of 10259

1.

rs1491493323 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    4:57439021 (GRCh38)
    4:58305187 (GRCh37)
    Canonical SPDI:
    NC_000004.12:57439020:TG:
    Gene:
    LINC02380 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.00017/2 (ALFA)
    -=0.00156/25 (TOMMO)
    -=0.00219/14 (1000Genomes)
    -=0.0046/247 (GnomAD)
    TG=0.26336/1015 (ALSPAC)
    TG=0.27724/1028 (TWINSUK)
    HGVS:
    2.

    rs1491427336 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      4:57429325 (GRCh38)
      4:58295491 (GRCh37)
      Canonical SPDI:
      NC_000004.12:57429324:TT:
      Gene:
      LINC02380 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.0008/27 (GnomAD)
      HGVS:
      3.

      rs1491421522 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        4:57429160 (GRCh38)
        4:58295326 (GRCh37)
        Canonical SPDI:
        NC_000004.12:57429158:TCT:T
        Gene:
        LINC02380 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.00008/1 (ALFA)
        -=0.00002/1 (GnomAD)
        HGVS:
        4.

        rs1491368998 has merged into rs1553882265 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,TTT,TTTT [Show Flanks]
          Chromosome:
          4:57426897 (GRCh38)
          4:58293063 (GRCh37)
          Canonical SPDI:
          NC_000004.12:57426895:TTT:T,NC_000004.12:57426895:TTT:TTTT,NC_000004.12:57426895:TTT:TTTTT
          Gene:
          LINC02380 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTT=0./0 (ALFA)
          -=0.0005/8 (TOMMO)
          HGVS:
          5.

          rs1491359872 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->CCTTTCTT
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491358042 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              4:57429327 (GRCh38)
              4:58295493 (GRCh37)
              Canonical SPDI:
              NC_000004.12:57429325:TAT:T
              Gene:
              LINC02380 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              -=0.00031/10 (GnomAD)
              HGVS:
              7.

              rs1491225964 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                4:57429139 (GRCh38)
                4:58295305 (GRCh37)
                Canonical SPDI:
                NC_000004.12:57429138:CT:
                Gene:
                LINC02380 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00008/1 (ALFA)
                HGVS:
                8.

                rs1491217453 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->C,TC,TCTTTC,TCTTTCTTTC,TCTTTCTTTCTTTC,TCTTTCTTTCTTTCTTTC,TCTTTCTTTCTTTCTTTCTTTC [Show Flanks]
                  Chromosome:
                  4:57429326 (GRCh38)
                  4:58295493 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:57429326::C,NC_000004.12:57429326::TC,NC_000004.12:57429326::TCTTTC,NC_000004.12:57429326::TCTTTCTTTC,NC_000004.12:57429326::TCTTTCTTTCTTTC,NC_000004.12:57429326::TCTTTCTTTCTTTCTTTC,NC_000004.12:57429326::TCTTTCTTTCTTTCTTTCTTTC
                  Gene:
                  LINC02380 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TCTTTC=0./0 (ALFA)
                  TCTTTCTTTCTTTCTTTCTTTC=0.000004/1 (TOPMED)
                  TCTTTCTTTCTTTC=0.000041/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491209664 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>-,TT,TTT [Show Flanks]
                    Chromosome:
                    4:57429140 (GRCh38)
                    4:58295306 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:57429139:TTTT:TTT,NC_000004.12:57429139:TTTT:TTTTT,NC_000004.12:57429139:TTTT:TTTTTT
                    Gene:
                    LINC02380 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTT=0./0 (ALFA)
                    TT=0.00018/3 (TOMMO)
                    HGVS:
                    10.

                    rs1491019024 has merged into rs58312088 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT [Show Flanks]
                      Chromosome:
                      4:57439437 (GRCh38)
                      4:58305603 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                      Gene:
                      LINC02380 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTT=0./0 (ALFA)
                      T=0.14333/86 (NorthernSweden)
                      T=0.225/9 (GENOME_DK)
                      HGVS:
                      11.

                      rs1490995867 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        4:57438101 (GRCh38)
                        4:58304267 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:57438100:T:G
                        Gene:
                        LINC02380 (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:
                        12.

                        rs1490978145 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          4:57451896 (GRCh38)
                          4:58318062 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:57451895:G:T
                          Gene:
                          LINC02380 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490949755 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:57437214 (GRCh38)
                            4:58303380 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:57437213:A:G
                            Gene:
                            LINC02380 (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:
                            14.

                            rs1490896701 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              4:57424948 (GRCh38)
                              4:58291114 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:57424947:A:T
                              Gene:
                              LINC02380 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490823561 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:57458604 (GRCh38)
                                4:58324770 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:57458603:C:T
                                Gene:
                                LINC02380 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                T=0.000142/2 (TOMMO)
                                HGVS:
                                16.

                                rs1490719654 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:57430644 (GRCh38)
                                  4:58296810 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:57430643:A:G
                                  Gene:
                                  LINC02380 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490719323 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:57457664 (GRCh38)
                                    4:58323830 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:57457663:A:G
                                    Gene:
                                    LINC02380 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490708185 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:57443193 (GRCh38)
                                      4:58309359 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:57443192:G:A
                                      Gene:
                                      LINC02380 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000026/7 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490682190 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:57444134 (GRCh38)
                                        4:58310300 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:57444133:C:T
                                        Gene:
                                        LINC02380 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490649855 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          4:57429491 (GRCh38)
                                          4:58295657 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:57429490:C:G
                                          Gene:
                                          LINC02380 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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