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Items: 1 to 20 of 976

1.

rs1490529403 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:124915213 (GRCh38)
    12:125399759 (GRCh37)
    Canonical SPDI:
    NC_000012.12:124915212:G:A
    Gene:
    UBC (Varview), MIR5188 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490413146 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      12:124913955 (GRCh38)
      12:125398501 (GRCh37)
      Canonical SPDI:
      NC_000012.12:124913954:T:A
      Gene:
      UBC (Varview), MIR5188 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1490205081 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->ATGCCCCCCACC [Show Flanks]
        Chromosome:
        12:124914352 (GRCh38)
        12:125398899 (GRCh37)
        Canonical SPDI:
        NC_000012.12:124914352:CCCACCATGCCCCCCACC:CCCACCATGCCCCCCACCATGCCCCCCACC
        Gene:
        UBC (Varview), MIR5188 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        CCCACCATGCCCCCCACCATGCCCCCCACC=0./0 (ALFA)
        HGVS:
        4.

        rs1490101345 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:124914349 (GRCh38)
          12:125398895 (GRCh37)
          Canonical SPDI:
          NC_000012.12:124914348:G:A
          Gene:
          UBC (Varview), MIR5188 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1490065834 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:124914698 (GRCh38)
            12:125399244 (GRCh37)
            Canonical SPDI:
            NC_000012.12:124914697:G:A
            Gene:
            UBC (Varview), MIR5188 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488891665 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              12:124914251 (GRCh38)
              12:125398797 (GRCh37)
              Canonical SPDI:
              NC_000012.12:124914250:A:T
              Gene:
              UBC (Varview), MIR5188 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1488772620 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:124914534 (GRCh38)
                12:125399080 (GRCh37)
                Canonical SPDI:
                NC_000012.12:124914533:G:A
                Gene:
                UBC (Varview), MIR5188 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_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.

                rs1487491286 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  12:124914956 (GRCh38)
                  12:125399502 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:124914955:G:T
                  Gene:
                  UBC (Varview), MIR5188 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1486828746 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:124915446 (GRCh38)
                    12:125399992 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:124915445:T:C
                    Gene:
                    UBC (Varview), MIR5188 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000084/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1485602797 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      12:124914489 (GRCh38)
                      12:125399035 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:124914488:C:G
                      Gene:
                      UBC (Varview), MIR5188 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1484853873 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        12:124913929 (GRCh38)
                        12:125398475 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:124913928:G:A,NC_000012.12:124913928:G:C
                        Gene:
                        UBC (Varview), MIR5188 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1483302166 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          12:124914037 (GRCh38)
                          12:125398583 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:124914036:C:G,NC_000012.12:124914036:C:T
                          Gene:
                          UBC (Varview), MIR5188 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1482422980 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            12:124915336 (GRCh38)
                            12:125399882 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:124915335:A:C
                            Gene:
                            UBC (Varview), MIR5188 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/3 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1482333048 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:124914874 (GRCh38)
                              12:125399420 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:124914873:G:A
                              Gene:
                              UBC (Varview), MIR5188 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1481803270 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:124914450 (GRCh38)
                                12:125398996 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:124914449:C:T
                                Gene:
                                UBC (Varview), MIR5188 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1481704716 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->CCCTCGGGTCGCGAACCCCGCGTTC [Show Flanks]
                                  Chromosome:
                                  12:124915058 (GRCh38)
                                  12:125399605 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:124915058:TCCCCTCGGGTCGCGAACCCCGCGTTC:TCCCCTCGGGTCGCGAACCCCGCGTTCCCCTCGGGTCGCGAACCCCGCGTTC
                                  Gene:
                                  UBC (Varview), MIR5188 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  TCCCCTCGGGTCGCGAACCCCGCGT=0.000029/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481434729 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:124914169 (GRCh38)
                                    12:125398715 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:124914168:A:G
                                    Gene:
                                    UBC (Varview), MIR5188 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480074909 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:124915113 (GRCh38)
                                      12:125399659 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:124915112:C:T
                                      Gene:
                                      UBC (Varview), MIR5188 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000019/5 (TOPMED)
                                      T=0.000043/6 (GnomAD)
                                      T=0.000071/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1478579205 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        12:124914770 (GRCh38)
                                        12:125399316 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:124914769:G:C
                                        Gene:
                                        UBC (Varview), MIR5188 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000026/7 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1478346505 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:124914673 (GRCh38)
                                          12:125399219 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:124914672:C:T
                                          Gene:
                                          UBC (Varview), MIR5188 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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