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Items: 1 to 20 of 1448

1.

rs1490276931 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:16381673 (GRCh38)
    17:16284987 (GRCh37)
    Canonical SPDI:
    NC_000017.11:16381672:A:G
    Gene:
    UBB (Varview)
    Functional Consequence:
    5_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000023/6 (TOPMED)
    HGVS:

    2.

    rs1489056547 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      17:16381730 (GRCh38)
      17:16285044 (GRCh37)
      Canonical SPDI:
      NC_000017.11:16381729:C:G,NC_000017.11:16381729:C:T
      Gene:
      UBB (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0./0 (Korea1K)
      T=0.000029/4 (GnomAD)
      G=0.000071/1 (TOMMO)
      T=0.000312/2 (1000Genomes)
      HGVS:

      3.

      rs1488472232 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:16381430 (GRCh38)
        17:16284744 (GRCh37)
        Canonical SPDI:
        NC_000017.11:16381429:T:C
        Gene:
        UBB (Varview)
        Functional Consequence:
        5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:

        4.

        rs1487933502 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:16379598 (GRCh38)
          17:16282912 (GRCh37)
          Canonical SPDI:
          NC_000017.11:16379597:G:A
          Gene:
          UBB (Varview), LOC124903937 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000014/2 (GnomAD)
          HGVS:

          5.

          rs1487921788 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            17:16380660 (GRCh38)
            17:16283974 (GRCh37)
            Canonical SPDI:
            NC_000017.11:16380659:C:G
            Gene:
            UBB (Varview), LOC124903937 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:

            6.

            rs1487869507 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G,T [Show Flanks]
              Chromosome:
              17:16381165 (GRCh38)
              17:16284479 (GRCh37)
              Canonical SPDI:
              NC_000017.11:16381164:A:C,NC_000017.11:16381164:A:G,NC_000017.11:16381164:A:T
              Gene:
              UBB (Varview), LOC124903937 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              C=0.000023/6 (TOPMED)
              A=0.5/1 (SGDP_PRJ)
              HGVS:

              7.

              rs1486936408 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:16380407 (GRCh38)
                17:16283721 (GRCh37)
                Canonical SPDI:
                NC_000017.11:16380406:G:A
                Gene:
                UBB (Varview), LOC124903937 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1486337596 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:16382787 (GRCh38)
                  17:16286101 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:16382786:C:T
                  Gene:
                  UBB (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000162/3 (ALFA)
                  T=0.000045/12 (TOPMED)
                  T=0.000064/9 (GnomAD)
                  T=0.000071/2 (TOMMO)
                  HGVS:

                  9.

                  rs1486275702 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    17:16383000 (GRCh38)
                    17:16286314 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:16382999:C:A,NC_000017.11:16382999:C:T
                    Gene:
                    UBB (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1486114890 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      17:16381131 (GRCh38)
                      17:16284445 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:16381130:T:C,NC_000017.11:16381130:T:G
                      Gene:
                      UBB (Varview), LOC124903937 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      G=0.000106/2 (TOMMO)
                      HGVS:

                      11.

                      rs1485511035 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        17:16380049 (GRCh38)
                        17:16283363 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:16380048:G:A,NC_000017.11:16380048:G:T
                        Gene:
                        UBB (Varview), LOC124903937 (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:

                        12.

                        rs1485504775 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          17:16381412 (GRCh38)
                          17:16284726 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:16381411:A:C
                          Gene:
                          UBB (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.000019/5 (TOPMED)
                          HGVS:

                          13.

                          rs1485433651 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:16382984 (GRCh38)
                            17:16286298 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:16382983:C:T
                            Gene:
                            UBB (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000011/3 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1484646512 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:16380122 (GRCh38)
                              17:16283436 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:16380121:C:T
                              Gene:
                              UBB (Varview), LOC124903937 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1484501493 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:16379351 (GRCh38)
                                17:16282665 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:16379350:C:T
                                Gene:
                                UBB (Varview), LOC124903937 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1483662117 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  17:16379725 (GRCh38)
                                  17:16283039 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:16379724:A:C
                                  Gene:
                                  UBB (Varview), LOC124903937 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1483611685 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:16380505 (GRCh38)
                                    17:16283819 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:16380504:G:A
                                    Gene:
                                    UBB (Varview), LOC124903937 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_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:

                                    18.

                                    rs1483566412 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      T>A
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:

                                      19.

                                      rs1482941662 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:16382087 (GRCh38)
                                        17:16285401 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:16382086:C:T
                                        Gene:
                                        UBB (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1482680857 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,T [Show Flanks]
                                          Chromosome:
                                          17:16382526 (GRCh38)
                                          17:16285840 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:16382525:A:C,NC_000017.11:16382525:A:T
                                          Gene:
                                          UBB (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          C=0.001092/2 (Korea1K)
                                          HGVS:
                                          NC_000017.11:g.16382526A>C, NC_000017.11:g.16382526A>T, NC_000017.10:g.16285840A>C, NC_000017.10:g.16285840A>T, NG_023320.1:g.6474A>C, NG_023320.1:g.6474A>T, NM_018955.4:c.619A>C, NM_018955.4:c.619A>T, NM_018955.3:c.619A>C, NM_018955.3:c.619A>T, NM_018955.2:c.619A>C, NM_018955.2:c.619A>T, NM_001281716.2:c.619A>C, NM_001281716.2:c.619A>T, NM_001281716.1:c.619A>C, NM_001281716.1:c.619A>T, NM_001281720.2:c.619A>C, NM_001281720.2:c.619A>T, NM_001281720.1:c.619A>C, NM_001281720.1:c.619A>T, NM_001281717.1:c.619A>C, NM_001281717.1:c.619A>T, NM_001281718.1:c.619A>C, NM_001281718.1:c.619A>T, NM_001281719.1:c.619A>C, NM_001281719.1:c.619A>T, NP_061828.1:p.Thr207Pro, NP_061828.1:p.Thr207Ser, NP_001268645.1:p.Thr207Pro, NP_001268645.1:p.Thr207Ser, NP_001268649.1:p.Thr207Pro, NP_001268649.1:p.Thr207Ser, NP_001268646.1:p.Thr207Pro, NP_001268646.1:p.Thr207Ser, NP_001268647.1:p.Thr207Pro, NP_001268647.1:p.Thr207Ser, NP_001268648.1:p.Thr207Pro, NP_001268648.1:p.Thr207Ser

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