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Links from Gene

Items: 1 to 20 of 973

1.

rs1491415534 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    1:110111764 (GRCh38)
    1:110654387 (GRCh37)
    Canonical SPDI:
    NC_000001.11:110111764::C
    Gene:
    UBL4B (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.00004/4 (GnomAD)
    HGVS:
    2.

    rs1491042080 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CC>- [Show Flanks]
      Chromosome:
      1:110111774 (GRCh38)
      1:110654396 (GRCh37)
      Canonical SPDI:
      NC_000001.11:110111773:CC:
      Gene:
      UBL4B (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1490954875 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:110112603 (GRCh38)
        1:110655225 (GRCh37)
        Canonical SPDI:
        NC_000001.11:110112602:A:G
        Gene:
        UBL4B (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1490467797 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:110111052 (GRCh38)
          1:110653674 (GRCh37)
          Canonical SPDI:
          NC_000001.11:110111051:A:G
          Gene:
          UBL4B (Varview)
          Functional Consequence:
          upstream_transcript_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:
          5.

          rs1489114615 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            1:110111881 (GRCh38)
            1:110654503 (GRCh37)
            Canonical SPDI:
            NC_000001.11:110111880:G:C,NC_000001.11:110111880:G:T
            Gene:
            UBL4B (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.000023/6 (TOPMED)
            C=0.000071/1 (TOMMO)
            HGVS:
            6.

            rs1487551208 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:110113511 (GRCh38)
              1:110656133 (GRCh37)
              Canonical SPDI:
              NC_000001.11:110113510:G:A
              Gene:
              UBL4B (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000108/2 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000021/3 (GnomAD)
              A=0.000446/2 (Estonian)
              HGVS:
              7.

              rs1487545658 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:110111526 (GRCh38)
                1:110654148 (GRCh37)
                Canonical SPDI:
                NC_000001.11:110111525:A:C
                Gene:
                UBL4B (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1487086233 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:110112514 (GRCh38)
                  1:110655136 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:110112513:C:T
                  Gene:
                  UBL4B (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1486489122 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:110112667 (GRCh38)
                    1:110655289 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:110112666:T:C
                    Gene:
                    UBL4B (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1485818739 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:110113997 (GRCh38)
                      1:110656619 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:110113996:A:G
                      Gene:
                      UBL4B (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000019/5 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      G=0.000071/1 (TOMMO)
                      HGVS:
                      11.

                      rs1482493833 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:110112523 (GRCh38)
                        1:110655145 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:110112522:C:T
                        Gene:
                        UBL4B (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1481710188 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:110110581 (GRCh38)
                          1:110653203 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:110110580:G:A
                          Gene:
                          UBL4B (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00005/7 (GnomAD)
                          A=0.000147/39 (TOPMED)
                          HGVS:
                          13.

                          rs1481666284 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            1:110111404 (GRCh38)
                            1:110654026 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:110111403:G:A,NC_000001.11:110111403:G:T
                            Gene:
                            UBL4B (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000015/4 (TOPMED)
                            A=0.000021/3 (GnomAD)
                            T=0.000071/1 (TOMMO)
                            A=0.000156/1 (1000Genomes)
                            HGVS:
                            14.

                            rs1481072803 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:110113101 (GRCh38)
                              1:110655723 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:110113100:C:T
                              Gene:
                              UBL4B (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000224/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000223/1 (Estonian)
                              HGVS:
                              15.

                              rs1480774893 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                1:110111747 (GRCh38)
                                1:110654369 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:110111746:C:A,NC_000001.11:110111746:C:T
                                Gene:
                                UBL4B (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=0.000008/1 (GnomAD)
                                HGVS:
                                16.

                                rs1480710395 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:110112490 (GRCh38)
                                  1:110655112 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:110112489:G:A
                                  Gene:
                                  UBL4B (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant
                                  HGVS:
                                  17.

                                  rs1480634916 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:110112879 (GRCh38)
                                    1:110655501 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:110112878:G:A
                                    Gene:
                                    UBL4B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1480149921 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:110113796 (GRCh38)
                                      1:110656418 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:110113795:C:T
                                      Gene:
                                      UBL4B (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478778414 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        1:110112004 (GRCh38)
                                        1:110654626 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:110112003:A:T
                                        Gene:
                                        UBL4B (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:
                                        20.

                                        rs1477613282 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:110111305 (GRCh38)
                                          1:110653927 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:110111304:C:T
                                          Gene:
                                          UBL4B (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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