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Items: 1 to 20 of 1045

1.

rs1491020364 has merged into rs35991384 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    16:35169340 (GRCh38)
    16:34403711 (GRCh37)
    Canonical SPDI:
    NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:35169329:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    UBE2MP1 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    2.

    rs1490509298 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      16:35171794 (GRCh38)
      16:34406165 (GRCh37)
      Canonical SPDI:
      NC_000016.10:35171793:T:C
      Gene:
      UBE2MP1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1490398664 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:35170206 (GRCh38)
        16:34404577 (GRCh37)
        Canonical SPDI:
        NC_000016.10:35170205:C:T
        Gene:
        UBE2MP1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1489270779 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          16:35170261 (GRCh38)
          16:34404632 (GRCh37)
          Canonical SPDI:
          NC_000016.10:35170260:G:A,NC_000016.10:35170260:G:T
          Gene:
          UBE2MP1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1487520269 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            16:35169924 (GRCh38)
            16:34404295 (GRCh37)
            Canonical SPDI:
            NC_000016.10:35169923:C:G,NC_000016.10:35169923:C:T
            Gene:
            UBE2MP1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            T=0./0 (KOREAN)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486346551 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:35170576 (GRCh38)
              16:34404947 (GRCh37)
              Canonical SPDI:
              NC_000016.10:35170575:C:T
              Gene:
              UBE2MP1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency
              MAF:
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1486209133 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                16:35168939 (GRCh38)
                16:34403310 (GRCh37)
                Canonical SPDI:
                NC_000016.10:35168938:G:A,NC_000016.10:35168938:G:T
                Gene:
                UBE2MP1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                T=0.000071/2 (TOMMO)
                HGVS:
                8.

                rs1486071314 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->TTG [Show Flanks]
                  Chromosome:
                  16:35169344 (GRCh38)
                  16:34403716 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:35169344:TTG:TTGTTG
                  Gene:
                  UBE2MP1 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TTGTTG=0./0 (ALFA)
                  TTG=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485309977 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    16:35172109 (GRCh38)
                    16:34406480 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:35172108:C:G
                    Gene:
                    UBE2MP1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000008/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485278743 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,G [Show Flanks]
                      Chromosome:
                      16:35171073 (GRCh38)
                      16:34405444 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:35171072:T:A,NC_000016.10:35171072:T:G
                      Gene:
                      UBE2MP1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1485069620 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:35169423 (GRCh38)
                        16:34403794 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:35169422:G:A
                        Gene:
                        UBE2MP1 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1483962413 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          16:35169991 (GRCh38)
                          16:34404362 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:35169990:C:G
                          Gene:
                          UBE2MP1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1482274346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:35169750 (GRCh38)
                            16:34404121 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:35169749:G:A
                            Gene:
                            UBE2MP1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1482113396 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:35172293 (GRCh38)
                              16:34406664 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:35172292:G:A
                              Gene:
                              UBE2MP1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1481667445 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->AA [Show Flanks]
                                Chromosome:
                                16:35171070 (GRCh38)
                                16:34405442 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:35171070:AA:AAAA
                                Gene:
                                UBE2MP1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAA=0./0 (ALFA)
                                AA=0.000007/1 (GnomAD)
                                AA=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1481605670 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:35170412 (GRCh38)
                                  16:34404783 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:35170411:C:T
                                  Gene:
                                  UBE2MP1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1481144987 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->GCCGC [Show Flanks]
                                    Chromosome:
                                    16:35170367 (GRCh38)
                                    16:34404739 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:35170367:GCCGCGCCGC:GCCGCGCCGCGCCGC
                                    Gene:
                                    UBE2MP1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GCCGCGCCGCGCCGC=0./0 (ALFA)
                                    GCCGC=0.000004/1 (TOPMED)
                                    GCCGC=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480703664 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ATTT>- [Show Flanks]
                                      Chromosome:
                                      16:35171507 (GRCh38)
                                      16:34405878 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:35171503:TTTATTT:TTT
                                      Gene:
                                      UBE2MP1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TTT=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1480625083 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        16:35170256 (GRCh38)
                                        16:34404627 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:35170255:C:A
                                        Gene:
                                        UBE2MP1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1480029385 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:35171426 (GRCh38)
                                          16:34405797 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:35171425:A:G
                                          Gene:
                                          UBE2MP1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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