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Links from Gene

Items: 1 to 20 of 3112

1.

rs1491245483 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->T
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1490841523 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      15:84177441 (GRCh38)
      15:84846193 (GRCh37)
      Canonical SPDI:
      NC_000015.10:84177440:G:C
      Gene:
      UBE2Q2L (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1490815883 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:84175110 (GRCh38)
        15:84843862 (GRCh37)
        Canonical SPDI:
        NC_000015.10:84175109:G:A
        Gene:
        UBE2Q2L (Varview), LOC124903544 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.00034/4 (ALFA)
        A=0.00036/30 (GnomAD)
        HGVS:
        4.

        rs1490641524 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          15:84186825 (GRCh38)
          15:84855577 (GRCh37)
          Canonical SPDI:
          NC_000015.10:84186824:C:A
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1490467250 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            15:84182732 (GRCh38)
            15:84851484 (GRCh37)
            Canonical SPDI:
            NC_000015.10:84182731:A:G
            Validated:
            by frequency,by alfa
            MAF:
            G=0.00008/1 (ALFA)
            HGVS:
            6.

            rs1490441760 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              15:84184096 (GRCh38)
              15:84852848 (GRCh37)
              Canonical SPDI:
              NC_000015.10:84184095:A:G,NC_000015.10:84184095:A:T
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              G=0.000065/9 (GnomAD)
              HGVS:
              7.

              rs1490329763 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                15:84184642 (GRCh38)
                15:84853394 (GRCh37)
                Canonical SPDI:
                NC_000015.10:84184641:G:A
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.00129/21 (ALFA)
                HGVS:
                8.

                rs1490298953 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  C>T
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  9.

                  rs1489785303 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    15:84186083 (GRCh38)
                    15:84854835 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:84186082:G:A,NC_000015.10:84186082:G:C
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.00005/2 (GnomAD)
                    A=0.00068/2 (KOREAN)
                    HGVS:
                    10.

                    rs1489489178 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CAT>- [Show Flanks]
                      Chromosome:
                      15:84178391 (GRCh38)
                      15:84847143 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:84178390:CAT:
                      Gene:
                      UBE2Q2L (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.00319/34 (TOMMO)
                      HGVS:
                      11.

                      rs1489365295 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:84174144 (GRCh38)
                        15:84842896 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:84174143:C:T
                        Gene:
                        UBE2Q2L (Varview), LOC124903544 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
                        12.

                        rs1489146416 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          15:84171427 (GRCh38)
                          15:84840179 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:84171426:T:A,NC_000015.10:84171426:T:C
                          Gene:
                          DNM1P41 (Varview), UBE2Q2L (Varview), LOC124903544 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.00006/1 (TOMMO)
                          HGVS:
                          13.

                          rs1489090800 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            15:84170289 (GRCh38)
                            15:84839041 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:84170288:G:C,NC_000015.10:84170288:G:T
                            Gene:
                            DNM1P41 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            C=0.00013/9 (GnomAD)
                            HGVS:
                            14.

                            rs1488880354 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              G>C
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1488723744 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                15:84180647 (GRCh38)
                                15:84849399 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:84180646:G:C
                                Gene:
                                UBE2Q2L (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1488622303 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  15:84178639 (GRCh38)
                                  15:84847392 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:84178639:TTTTTT:TTTTTTT
                                  Gene:
                                  UBE2Q2L (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1488600782 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:84180700 (GRCh38)
                                    15:84849452 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:84180699:C:T
                                    Gene:
                                    UBE2Q2L (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.00008/1 (ALFA)
                                    T=0.00025/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488208514 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      15:84177999 (GRCh38)
                                      15:84846751 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:84177998:T:C
                                      Gene:
                                      UBE2Q2L (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.00001/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488078805 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        15:84181829 (GRCh38)
                                        15:84850581 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:84181828:A:G
                                        Gene:
                                        UBE2Q2L (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1487823762 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          15:84172838 (GRCh38)
                                          15:84841590 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:84172837:C:G
                                          Gene:
                                          DNM1P41 (Varview), UBE2Q2L (Varview), LOC124903544 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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