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Links from Gene

Items: 1 to 20 of 1353

1.

rs1490986917 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAT>- [Show Flanks]
    Chromosome:
    20:30403052 (GRCh38)
    20:29637728 (GRCh37)
    Canonical SPDI:
    NC_000020.11:30403048:AATAAAT:AAT
    Gene:
    MLLT10P1 (Varview), FRG1BP (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAT=0./0 (ALFA)
    -=0.000076/20 (TOPMED)
    -=0.000107/15 (GnomAD)
    HGVS:
    2.

    rs1490930553 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      20:30403704 (GRCh38)
      20:29638380 (GRCh37)
      Canonical SPDI:
      NC_000020.11:30403703:T:C
      Gene:
      MLLT10P1 (Varview), FRG1BP (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000079/11 (GnomAD)
      C=0.000312/2 (1000Genomes)
      HGVS:
      3.

      rs1489535768 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:30402546 (GRCh38)
        20:29637222 (GRCh37)
        Canonical SPDI:
        NC_000020.11:30402545:C:T
        Gene:
        MLLT10P1 (Varview), FRG1BP (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488029240 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          20:30405181 (GRCh38)
          20:29639857 (GRCh37)
          Canonical SPDI:
          NC_000020.11:30405180:A:G
          Gene:
          MLLT10P1 (Varview), FRG1BP (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.01335/218 (ALFA)
          G=0.001203/125 (GnomAD)
          G=0.003292/55 (TOMMO)
          G=0.003906/7 (Korea1K)
          G=0.007964/51 (1000Genomes)
          G=0.040606/118 (KOREAN)
          HGVS:
          5.

          rs1488024120 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            20:30405345 (GRCh38)
            20:29640021 (GRCh37)
            Canonical SPDI:
            NC_000020.11:30405344:CC:C
            Gene:
            MLLT10P1 (Varview), FRG1BP (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000008/1 (GnomAD)
            HGVS:
            6.

            rs1487737418 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              20:30405409 (GRCh38)
              20:29640085 (GRCh37)
              Canonical SPDI:
              NC_000020.11:30405408:G:A,NC_000020.11:30405408:G:C,NC_000020.11:30405408:G:T
              Gene:
              MLLT10P1 (Varview), FRG1BP (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.0027/32 (ALFA)
              A=0.00028/8 (TOMMO)
              G=0.5/1 (SGDP_PRJ)
              HGVS:
              7.

              rs1487684159 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                20:30403093 (GRCh38)
                20:29637769 (GRCh37)
                Canonical SPDI:
                NC_000020.11:30403092:C:A
                Gene:
                MLLT10P1 (Varview), FRG1BP (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1487478755 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  20:30404929 (GRCh38)
                  20:29639605 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:30404928:A:C
                  Gene:
                  MLLT10P1 (Varview), FRG1BP (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.00025/3 (ALFA)
                  C=0.00016/1 (1000Genomes)
                  C=0.00685/20 (KOREAN)
                  HGVS:
                  9.

                  rs1486494228 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    20:30404784 (GRCh38)
                    20:29639460 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:30404783:C:A,NC_000020.11:30404783:C:T
                    Gene:
                    MLLT10P1 (Varview), FRG1BP (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1485988869 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:30403169 (GRCh38)
                      20:29637845 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:30403168:G:A
                      Gene:
                      MLLT10P1 (Varview), FRG1BP (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_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:
                      11.

                      rs1485773415 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        20:30402611 (GRCh38)
                        20:29637287 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:30402610:T:C
                        Gene:
                        MLLT10P1 (Varview), FRG1BP (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1485511389 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          20:30404628 (GRCh38)
                          20:29639304 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:30404627:C:A,NC_000020.11:30404627:C:T
                          Gene:
                          MLLT10P1 (Varview), FRG1BP (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000036/5 (GnomAD)
                          T=0.00006/1 (TOMMO)
                          HGVS:
                          13.

                          rs1484528906 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            20:30404400 (GRCh38)
                            20:29639076 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:30404399:GG:G
                            Gene:
                            MLLT10P1 (Varview), FRG1BP (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GG=0./0 (ALFA)
                            -=0.00001/1 (GnomAD)
                            -=0.000072/19 (TOPMED)
                            HGVS:
                            14.

                            rs1484269347 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              20:30405096 (GRCh38)
                              20:29639772 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:30405095:C:G,NC_000020.11:30405095:C:T
                              Gene:
                              MLLT10P1 (Varview), FRG1BP (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484231780 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:30404347 (GRCh38)
                                20:29639023 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:30404346:G:A
                                Gene:
                                MLLT10P1 (Varview), FRG1BP (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                G=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1483565339 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CCCTCTCTTTCCACGGTCTCCCTCT>- [Show Flanks]
                                  Chromosome:
                                  20:30404235 (GRCh38)
                                  20:29638911 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:30404219:CCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCT:CCACGGTCTCCCTCT
                                  Gene:
                                  MLLT10P1 (Varview), FRG1BP (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCACGGTCTCCCTCT=0.000142/2 (ALFA)
                                  -=0.000035/1 (TOMMO)
                                  -=0.000072/8 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1482338132 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    20:30405410 (GRCh38)
                                    20:29640086 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:30405409:G:A,NC_000020.11:30405409:G:T
                                    Gene:
                                    MLLT10P1 (Varview), FRG1BP (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.00009/12 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481701178 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CAT>- [Show Flanks]
                                      Chromosome:
                                      20:30403093 (GRCh38)
                                      20:29637769 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:30403089:CATCAT:CAT
                                      Gene:
                                      MLLT10P1 (Varview), FRG1BP (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CATCAT=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481485548 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        20:30403149 (GRCh38)
                                        20:29637825 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:30403148:T:A,NC_000020.11:30403148:T:C
                                        Gene:
                                        MLLT10P1 (Varview), FRG1BP (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000035/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1481400330 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          20:30404649 (GRCh38)
                                          20:29639325 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:30404648:G:A
                                          Gene:
                                          MLLT10P1 (Varview), FRG1BP (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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:

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