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Items: 1 to 20 of 12435

1.

rs1491580296 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C,CTC,CTCTC,G [Show Flanks]
    Chromosome:
    1:201920046 (GRCh38)
    1:201889175 (GRCh37)
    Canonical SPDI:
    NC_000001.11:201920046::C,NC_000001.11:201920046::CTC,NC_000001.11:201920046::CTCTC,NC_000001.11:201920046::G
    Gene:
    LMOD1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTC=0./0 (ALFA)
    CTCTC=0.000004/1 (TOPMED)
    C=0.002596/39 (TOMMO)
    HGVS:
    2.

    rs1491530830 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GAA [Show Flanks]
      Chromosome:
      1:201924690 (GRCh38)
      1:201893819 (GRCh37)
      Canonical SPDI:
      NC_000001.11:201924690:AAGAA:AAGAAGAA
      Gene:
      LMOD1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      AAGAAGAA=0./0 (ALFA)
      AAG=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1491529333 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GG>- [Show Flanks]
        Chromosome:
        1:201923904 (GRCh38)
        1:201893032 (GRCh37)
        Canonical SPDI:
        NC_000001.11:201923902:GGG:G
        Gene:
        LMOD1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        -=0.0003/37 (GnomAD)
        -=0.000591/10 (TOMMO)
        HGVS:
        4.

        rs1491517364 has merged into rs72255474 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          1:201927600 (GRCh38)
          1:201896728 (GRCh37)
          Canonical SPDI:
          NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201927588:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          LMOD1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.20467/1025 (1000Genomes)
          HGVS:
          5.

          rs1491417855 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->ATATG [Show Flanks]
            Chromosome:
            1:201901512 (GRCh38)
            1:201870641 (GRCh37)
            Canonical SPDI:
            NC_000001.11:201901512::ATATG
            Gene:
            LMOD1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            ATATG=0./0 (ALFA)
            HGVS:
            6.

            rs1491402426 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GA [Show Flanks]
              Chromosome:
              1:201924661 (GRCh38)
              1:201893790 (GRCh37)
              Canonical SPDI:
              NC_000001.11:201924661:A:AGA
              Gene:
              LMOD1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              AGA=0./0 (ALFA)
              HGVS:
              7.

              rs1491395461 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                1:201923932 (GRCh38)
                1:201893061 (GRCh37)
                Canonical SPDI:
                NC_000001.11:201923932::G
                Gene:
                LMOD1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.0018/8 (ALFA)
                HGVS:
                8.

                rs1491357866 has merged into rs1224538245 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
                  Chromosome:
                  1:201924663 (GRCh38)
                  1:201893791 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:201924660:AAAAAAAA:AA,NC_000001.11:201924660:AAAAAAAA:AAA,NC_000001.11:201924660:AAAAAAAA:AAAA,NC_000001.11:201924660:AAAAAAAA:AAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAAAAA,NC_000001.11:201924660:AAAAAAAA:AAAAAAAAAA
                  Gene:
                  LMOD1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AA=0./0 (ALFA)
                  -=0.00055/1 (Korea1K)
                  HGVS:
                  9.

                  rs1491335207 has merged into rs57488982 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    1:201921497 (GRCh38)
                    1:201890625 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201921487:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    LMOD1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000001.11:g.201921497_201921512del, NC_000001.11:g.201921498_201921512del, NC_000001.11:g.201921501_201921512del, NC_000001.11:g.201921503_201921512del, NC_000001.11:g.201921504_201921512del, NC_000001.11:g.201921505_201921512del, NC_000001.11:g.201921506_201921512del, NC_000001.11:g.201921507_201921512del, NC_000001.11:g.201921508_201921512del, NC_000001.11:g.201921509_201921512del, NC_000001.11:g.201921510_201921512del, NC_000001.11:g.201921511_201921512del, NC_000001.11:g.201921512del, NC_000001.11:g.201921512dup, NC_000001.11:g.201921511_201921512dup, NC_000001.11:g.201921510_201921512dup, NC_000001.11:g.201921509_201921512dup, NC_000001.11:g.201921508_201921512dup, NC_000001.11:g.201921507_201921512dup, NC_000001.11:g.201921496_201921512dup, NC_000001.10:g.201890625_201890640del, NC_000001.10:g.201890626_201890640del, NC_000001.10:g.201890629_201890640del, NC_000001.10:g.201890631_201890640del, NC_000001.10:g.201890632_201890640del, NC_000001.10:g.201890633_201890640del, NC_000001.10:g.201890634_201890640del, NC_000001.10:g.201890635_201890640del, NC_000001.10:g.201890636_201890640del, NC_000001.10:g.201890637_201890640del, NC_000001.10:g.201890638_201890640del, NC_000001.10:g.201890639_201890640del, NC_000001.10:g.201890640del, NC_000001.10:g.201890640dup, NC_000001.10:g.201890639_201890640dup, NC_000001.10:g.201890638_201890640dup, NC_000001.10:g.201890637_201890640dup, NC_000001.10:g.201890636_201890640dup, NC_000001.10:g.201890635_201890640dup, NC_000001.10:g.201890624_201890640dup
                    10.

                    rs1491309253 has merged into rs1553295627 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ATAT>-,AT,ATATAT,ATATATAT,ATATATATGTATATATATATATATATATATAT,ATATATGTATATATATATATATATAT,ATATATGTATATATATATATATATATAT,ATATATGTATATATATATATATATATATAT,ATATATGTATATATATATATATATATATATAT,ATATATGTATATATATATATATATATATATATATAT,ATATATGTATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATGTGTATATATATATATATATAT,ATATATGTGTATATATATATATATATATAT [Show Flanks]
                      Chromosome:
                      1:201901526 (GRCh38)
                      1:201870654 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTGTATATATATATATATATAT,NC_000001.11:201901511:ATATATATATATATATAT:ATATATATATATATATATATGTGTATATATATATATATATATAT
                      Gene:
                      LMOD1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATATATATATATATATATATAT=0./0 (ALFA)
                      HGVS:
                      NC_000001.11:g.201901512AT[7], NC_000001.11:g.201901512AT[8], NC_000001.11:g.201901512AT[10], NC_000001.11:g.201901512AT[11], NC_000001.11:g.201901512_201901529AT[11]GTATATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATATATAT[1], NC_000001.11:g.201901512_201901529AT[10]GTATATATATATATATATATATATATATAT[1], NC_000001.11:g.201901529_201901530insATGTATATATATATATATATATATATATGTATATATATATATATATATATAT, NC_000001.11:g.201901512_201901529AT[10]GT[2]AT[9], NC_000001.11:g.201901512_201901529AT[10]GT[2]AT[10], NC_000001.10:g.201870640AT[7], NC_000001.10:g.201870640AT[8], NC_000001.10:g.201870640AT[10], NC_000001.10:g.201870640AT[11], NC_000001.10:g.201870640_201870657AT[11]GTATATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATATATAT[1], NC_000001.10:g.201870640_201870657AT[10]GTATATATATATATATATATATATATATAT[1], NC_000001.10:g.201870657_201870658insATGTATATATATATATATATATATATATGTATATATATATATATATATATAT, NC_000001.10:g.201870640_201870657AT[10]GT[2]AT[9], NC_000001.10:g.201870640_201870657AT[10]GT[2]AT[10]
                      11.

                      rs1491298039 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>-,AAAA [Show Flanks]
                        Chromosome:
                        1:201923933 (GRCh38)
                        1:201893061 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:201923931:AAA:A,NC_000001.11:201923931:AAA:AAAAA
                        Gene:
                        LMOD1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.00049/8 (ALFA)
                        -=0./0 (GnomAD)
                        -=0.000865/22 (TOMMO)
                        HGVS:
                        12.

                        rs1491255878 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          1:201931535 (GRCh38)
                          1:201900663 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:201931534:CA:
                          Gene:
                          LMOD1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491247542 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TG>- [Show Flanks]
                            Chromosome:
                            1:201919228 (GRCh38)
                            1:201888356 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:201919227:TG:
                            Gene:
                            LMOD1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1491229361 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GAA [Show Flanks]
                              Chromosome:
                              1:201924682 (GRCh38)
                              1:201893811 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:201924682:AAGAA:AAGAAGAA
                              Gene:
                              LMOD1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AAGAAGAA=0./0 (ALFA)
                              AAG=0.00049/17 (GnomAD)
                              HGVS:
                              15.

                              rs1491222130 has merged into rs34220629 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                1:201948182 (GRCh38)
                                1:201917310 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:201948169:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                LMOD1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAAA=0./0 (ALFA)
                                AA=0.4329/2168 (1000Genomes)
                                HGVS:
                                16.

                                rs1491221032 has merged into rs576044641 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  1:201920057 (GRCh38)
                                  1:201889185 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:201920045:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  LMOD1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTT=0./0 (ALFA)
                                  TTTTTTTTTTTTTTT=0./0 (GENOME_DK)
                                  TTTTTTTTTTTTTTTT=0.4071/2039 (1000Genomes)
                                  HGVS:
                                  NC_000001.11:g.201920057_201920073del, NC_000001.11:g.201920058_201920073del, NC_000001.11:g.201920059_201920073del, NC_000001.11:g.201920060_201920073del, NC_000001.11:g.201920061_201920073del, NC_000001.11:g.201920062_201920073del, NC_000001.11:g.201920063_201920073del, NC_000001.11:g.201920064_201920073del, NC_000001.11:g.201920065_201920073del, NC_000001.11:g.201920066_201920073del, NC_000001.11:g.201920067_201920073del, NC_000001.11:g.201920068_201920073del, NC_000001.11:g.201920069_201920073del, NC_000001.11:g.201920070_201920073del, NC_000001.11:g.201920071_201920073del, NC_000001.11:g.201920072_201920073del, NC_000001.11:g.201920073del, NC_000001.11:g.201920073dup, NC_000001.11:g.201920072_201920073dup, NC_000001.11:g.201920071_201920073dup, NC_000001.11:g.201920070_201920073dup, NC_000001.11:g.201920069_201920073dup, NC_000001.11:g.201920068_201920073dup, NC_000001.11:g.201920067_201920073dup, NC_000001.11:g.201920065_201920073dup, NC_000001.11:g.201920063_201920073dup, NC_000001.10:g.201889185_201889201del, NC_000001.10:g.201889186_201889201del, NC_000001.10:g.201889187_201889201del, NC_000001.10:g.201889188_201889201del, NC_000001.10:g.201889189_201889201del, NC_000001.10:g.201889190_201889201del, NC_000001.10:g.201889191_201889201del, NC_000001.10:g.201889192_201889201del, NC_000001.10:g.201889193_201889201del, NC_000001.10:g.201889194_201889201del, NC_000001.10:g.201889195_201889201del, NC_000001.10:g.201889196_201889201del, NC_000001.10:g.201889197_201889201del, NC_000001.10:g.201889198_201889201del, NC_000001.10:g.201889199_201889201del, NC_000001.10:g.201889200_201889201del, NC_000001.10:g.201889201del, NC_000001.10:g.201889201dup, NC_000001.10:g.201889200_201889201dup, NC_000001.10:g.201889199_201889201dup, NC_000001.10:g.201889198_201889201dup, NC_000001.10:g.201889197_201889201dup, NC_000001.10:g.201889196_201889201dup, NC_000001.10:g.201889195_201889201dup, NC_000001.10:g.201889193_201889201dup, NC_000001.10:g.201889191_201889201dup
                                  17.

                                  rs1491219947 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    1:201936096 (GRCh38)
                                    1:201905224 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:201936095:CA:
                                    Gene:
                                    LMOD1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491210634 has merged into rs1252319848 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AA>-,A,AAA,AAAAAAA [Show Flanks]
                                      Chromosome:
                                      1:201924683 (GRCh38)
                                      1:201893811 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:201924681:AAA:A,NC_000001.11:201924681:AAA:AA,NC_000001.11:201924681:AAA:AAAA,NC_000001.11:201924681:AAA:AAAAAAAA
                                      Gene:
                                      LMOD1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      -=0.00009/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491196328 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        1:201948169 (GRCh38)
                                        1:201917297 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:201948168:CA:
                                        Gene:
                                        LMOD1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.00008/1 (ALFA)
                                        -=0.00033/7 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491195561 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CA>- [Show Flanks]
                                          Chromosome:
                                          1:201921487 (GRCh38)
                                          1:201890615 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:201921486:CA:
                                          Gene:
                                          LMOD1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.00051/6 (ALFA)
                                          -=0.00299/82 (TOMMO)
                                          HGVS:

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