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Links from Gene

Items: 1 to 20 of 4876

1.

rs1490988155 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    19:14517515 (GRCh38)
    19:14628327 (GRCh37)
    Canonical SPDI:
    NC_000019.10:14517514:G:A,NC_000019.10:14517514:G:C,NC_000019.10:14517514:G:T
    Gene:
    DNAJB1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490644121 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AGACCCTGT>- [Show Flanks]
      Chromosome:
      19:14524509 (GRCh38)
      19:14635321 (GRCh37)
      Canonical SPDI:
      NC_000019.10:14524508:AGACCCTGT:
      Gene:
      DNAJB1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490587560 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        19:14523498 (GRCh38)
        19:14634310 (GRCh37)
        Canonical SPDI:
        NC_000019.10:14523497:G:C
        Gene:
        DNAJB1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490540572 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          19:14514431 (GRCh38)
          19:14625243 (GRCh37)
          Canonical SPDI:
          NC_000019.10:14514430:G:A,NC_000019.10:14514430:G:C
          Gene:
          DNAJB1 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490384264 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:14530356 (GRCh38)
            19:14641168 (GRCh37)
            Canonical SPDI:
            NC_000019.10:14530355:C:T
            Gene:
            DNAJB1 (Varview), TECR (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000147/39 (TOPMED)
            T=0.000299/42 (GnomAD)
            HGVS:
            6.

            rs1490221552 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              19:14530796 (GRCh38)
              19:14641608 (GRCh37)
              Canonical SPDI:
              NC_000019.10:14530795:T:G
              Gene:
              DNAJB1 (Varview), TECR (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490195444 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:14518226 (GRCh38)
                19:14629038 (GRCh37)
                Canonical SPDI:
                NC_000019.10:14518225:C:T
                Gene:
                DNAJB1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490005220 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  19:14517971 (GRCh38)
                  19:14628783 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:14517970:CC:C
                  Gene:
                  DNAJB1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CC=0.000071/1 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489744528 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    19:14523922 (GRCh38)
                    19:14634734 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:14523921:C:G
                    Gene:
                    DNAJB1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000015/4 (TOPMED)
                    HGVS:
                    11.

                    rs1489655891 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      19:14527969 (GRCh38)
                      19:14638781 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:14527968:C:A
                      Gene:
                      DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      12.

                      rs1489450502 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        19:14525051 (GRCh38)
                        19:14635863 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:14525050:T:
                        Gene:
                        DNAJB1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        13.

                        rs1489399844 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:14523956 (GRCh38)
                          19:14634768 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:14523955:C:G
                          Gene:
                          DNAJB1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          15.

                          rs1489230208 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            19:14528590 (GRCh38)
                            19:14639402 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:14528589:G:
                            Gene:
                            DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000019/5 (TOPMED)
                            HGVS:
                            16.

                            rs1489180176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:14527684 (GRCh38)
                              19:14638496 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:14527683:C:T
                              Gene:
                              DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              17.

                              rs1489085072 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                A>C
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                18.

                                rs1489074699 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:14516248 (GRCh38)
                                  19:14627060 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:14516247:G:A
                                  Gene:
                                  DNAJB1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  19.

                                  rs1488908621 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:14529014 (GRCh38)
                                    19:14639826 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:14529013:G:A
                                    Gene:
                                    DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_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:
                                    20.

                                    rs1488753876 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:14530955 (GRCh38)
                                      19:14641767 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:14530954:C:T
                                      Gene:
                                      DNAJB1 (Varview), TECR (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000026/7 (TOPMED)
                                      T=0.000156/1 (1000Genomes)
                                      HGVS:

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