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Links from Gene

Items: 1 to 20 of 5299

1.

rs1491578787 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    10:19719219 (GRCh38)
    10:20008148 (GRCh37)
    Canonical SPDI:
    NC_000010.11:19719217:ACA:A
    Gene:
    MALRD1 (Varview), LOC101928834 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    -=0.0002/11 (GnomAD)
    HGVS:
    2.

    rs1491530111 has merged into rs35599289 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>-,GG,GGG [Show Flanks]
      Chromosome:
      10:19713045 (GRCh38)
      10:20001974 (GRCh37)
      Canonical SPDI:
      NC_000010.11:19713044:GGGGGGGG:GGGGGGG,NC_000010.11:19713044:GGGGGGGG:GGGGGGGGG,NC_000010.11:19713044:GGGGGGGG:GGGGGGGGGG
      Gene:
      MALRD1 (Varview), LOC101928834 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGGGG=0.000108/1 (ALFA)
      G=0.420429/1881 (Estonian)
      G=0.442857/93 (Vietnamese)
      G=0.449481/2251 (1000Genomes)
      G=0.455242/120498 (TOPMED)
      G=0.464883/278 (NorthernSweden)
      G=0.475/19 (GENOME_DK)
      G=0.475528/855 (Korea1K)
      G=0.476648/1837 (ALSPAC)
      G=0.480313/1781 (TWINSUK)
      HGVS:
      3.

      rs1491464679 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->T,TG [Show Flanks]
        Chromosome:
        10:19719222 (GRCh38)
        10:20008152 (GRCh37)
        Canonical SPDI:
        NC_000010.11:19719222::T,NC_000010.11:19719222::TG
        Gene:
        MALRD1 (Varview), LOC101928834 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        HGVS:
        4.

        rs1491423253 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          10:19719223 (GRCh38)
          10:20008152 (GRCh37)
          Canonical SPDI:
          NC_000010.11:19719221:ACA:A
          Gene:
          MALRD1 (Varview), LOC101928834 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.00008/1 (ALFA)
          -=0.00008/5 (GnomAD)
          -=0.00046/13 (TOMMO)
          HGVS:
          5.

          rs1491406524 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GTGT,GTGTGT,GTTT [Show Flanks]
            Chromosome:
            10:19719216 (GRCh38)
            10:20008146 (GRCh37)
            Canonical SPDI:
            NC_000010.11:19719216:T:TGTGT,NC_000010.11:19719216:T:TGTGTGT,NC_000010.11:19719216:T:TGTTT
            Gene:
            MALRD1 (Varview), LOC101928834 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            TGTGTG=0.00002/1 (GnomAD)
            TGTG=0.00119/2 (Korea1K)
            HGVS:
            6.

            rs1491272703 has merged into rs1366048990 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATGTGTATATA,TATATATATATATGTGTATATATA [Show Flanks]
              Chromosome:
              10:19719217 (GRCh38)
              10:20008146 (GRCh37)
              Canonical SPDI:
              NC_000010.11:19719215:ATA:A,NC_000010.11:19719215:ATA:ATATA,NC_000010.11:19719215:ATA:ATATATA,NC_000010.11:19719215:ATA:ATATATATA,NC_000010.11:19719215:ATA:ATATATATATA,NC_000010.11:19719215:ATA:ATATATATATATA,NC_000010.11:19719215:ATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:19719215:ATA:ATATATATATATATGTGTATATA,NC_000010.11:19719215:ATA:ATATATATATATATGTGTATATATA
              Gene:
              MALRD1 (Varview), LOC101928834 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATA=0./0 (ALFA)
              HGVS:
              7.

              rs1491221923 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->ATAGGATCCTTTCGTGTGTGTGTGT [Show Flanks]
                Chromosome:
                10:19729572 (GRCh38)
                10:20018502 (GRCh37)
                Canonical SPDI:
                NC_000010.11:19729572:TGTGTGTATAGGATCCTTTCGTGTGTGTGTGT:TGTGTGTATAGGATCCTTTCGTGTGTGTGTGTATAGGATCCTTTCGTGTGTGTGTGT
                Gene:
                MALRD1 (Varview), LOC101928834 (Varview)
                Functional Consequence:
                2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TGTGTGTATAGGATCCTTTCGTGTGTGTGTGTATAGGATCCTTTCGTGTGTGTGTGT=0./0 (ALFA)
                TGTGTGTATAGGATCCTTTCGTGTG=0.00008/11 (GnomAD)
                HGVS:
                8.

                rs1491196041 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CG>- [Show Flanks]
                  Chromosome:
                  10:19729592 (GRCh38)
                  10:20018521 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:19729591:CG:
                  Gene:
                  MALRD1 (Varview), LOC101928834 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491135872 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AG>- [Show Flanks]
                    Chromosome:
                    10:19713044 (GRCh38)
                    10:20001973 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:19713043:AG:
                    Gene:
                    MALRD1 (Varview), LOC101928834 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000019/5 (TOPMED)
                    -=0.000023/2 (GnomAD)
                    HGVS:
                    10.

                    rs1491126854 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->TATGTGTGTG,TG,TGTGTG [Show Flanks]
                      Chromosome:
                      10:19719218 (GRCh38)
                      10:20008148 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:19719218::TATGTGTGTG,NC_000010.11:19719218::TG,NC_000010.11:19719218::TGTGTG
                      Gene:
                      MALRD1 (Varview), LOC101928834 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      TG=0.00002/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491076824 has merged into rs34633700 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AGAAGAAGAAGA>-,AGA,AGAAGA,AGAAGAAGA,AGAAGAAGAAGAAGA,AGAAGAAGAAGAAGAAGA [Show Flanks]
                        Chromosome:
                        10:19718116 (GRCh38)
                        10:20007045 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGAAGAAGAAGA,NC_000010.11:19718107:GAAGAAGAAGAAGAAGAAGA:GAAGAAGAAGAAGAAGAAGAAGAAGA
                        Gene:
                        MALRD1 (Varview), LOC101928834 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GAAGAAGAAGAAGAAGAAGAAGA=0./0 (ALFA)
                        -=0.0013/5 (ALSPAC)
                        GAA=0.4563/2285 (1000Genomes)
                        GAA=0.475/19 (GENOME_DK)
                        HGVS:
                        12.

                        rs1490982727 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          10:19714702 (GRCh38)
                          10:20003631 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:19714701:A:G
                          Gene:
                          MALRD1 (Varview), LOC101928834 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490948465 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:19711998 (GRCh38)
                            10:20000927 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:19711997:C:T
                            Gene:
                            MALRD1 (Varview), LOC101928834 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.0002/1 (ALFA)
                            T=0.0002/1 (Estonian)
                            HGVS:
                            14.

                            rs1490903897 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:19727344 (GRCh38)
                              10:20016273 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:19727343:A:G
                              Gene:
                              MALRD1 (Varview), LOC101928834 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1490878730 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                10:19728201 (GRCh38)
                                10:20017130 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:19728200:G:
                                Gene:
                                MALRD1 (Varview), LOC101928834 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1490530160 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:19720130 (GRCh38)
                                  10:20009059 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:19720129:A:G
                                  Gene:
                                  MALRD1 (Varview), LOC101928834 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490439911 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:19715140 (GRCh38)
                                    10:20004069 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:19715139:A:G
                                    Gene:
                                    MALRD1 (Varview), LOC101928834 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490413688 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      10:19726927 (GRCh38)
                                      10:20015856 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:19726926:T:A
                                      Gene:
                                      MALRD1 (Varview), LOC101928834 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489949996 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:19714707 (GRCh38)
                                        10:20003636 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:19714706:A:G
                                        Gene:
                                        MALRD1 (Varview), LOC101928834 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489922576 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:19726511 (GRCh38)
                                          10:20015440 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:19726510:A:G
                                          Gene:
                                          MALRD1 (Varview), LOC101928834 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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