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1.

rs1491332084 has merged into rs67376686 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    12:113382875 (GRCh38)
    12:113820680 (GRCh37)
    Canonical SPDI:
    NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113382867:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    PLBD2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000012.12:g.113382875_113382890del, NC_000012.12:g.113382876_113382890del, NC_000012.12:g.113382877_113382890del, NC_000012.12:g.113382879_113382890del, NC_000012.12:g.113382880_113382890del, NC_000012.12:g.113382881_113382890del, NC_000012.12:g.113382882_113382890del, NC_000012.12:g.113382883_113382890del, NC_000012.12:g.113382884_113382890del, NC_000012.12:g.113382885_113382890del, NC_000012.12:g.113382886_113382890del, NC_000012.12:g.113382887_113382890del, NC_000012.12:g.113382888_113382890del, NC_000012.12:g.113382889_113382890del, NC_000012.12:g.113382890del, NC_000012.12:g.113382890dup, NC_000012.12:g.113382889_113382890dup, NC_000012.12:g.113382888_113382890dup, NC_000012.12:g.113382887_113382890dup, NC_000012.11:g.113820680_113820695del, NC_000012.11:g.113820681_113820695del, NC_000012.11:g.113820682_113820695del, NC_000012.11:g.113820684_113820695del, NC_000012.11:g.113820685_113820695del, NC_000012.11:g.113820686_113820695del, NC_000012.11:g.113820687_113820695del, NC_000012.11:g.113820688_113820695del, NC_000012.11:g.113820689_113820695del, NC_000012.11:g.113820690_113820695del, NC_000012.11:g.113820691_113820695del, NC_000012.11:g.113820692_113820695del, NC_000012.11:g.113820693_113820695del, NC_000012.11:g.113820694_113820695del, NC_000012.11:g.113820695del, NC_000012.11:g.113820695dup, NC_000012.11:g.113820694_113820695dup, NC_000012.11:g.113820693_113820695dup, NC_000012.11:g.113820692_113820695dup
    2.

    rs1491218344 has merged into rs112639164 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT,TTTT [Show Flanks]
      Chromosome:
      12:113362802 (GRCh38)
      12:113800607 (GRCh37)
      Canonical SPDI:
      NC_000012.12:113362791:TTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:113362791:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:113362791:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:113362791:TTTTTTTTTTTT:TTTTTTTTTTTTTT
      Gene:
      PLBD2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      -=0.162/747 (1000Genomes)
      HGVS:
      3.

      rs1491184280 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->CTG,G,GTG,GTGG,GTGTG,GTGTGTC,GTGTGTCTG,GTGTGTG,GTGTGTGTCTG,GTGTGTGTCTGTG,GTGTGTGTG,GTGTGTGTGTCTG,GTGTGTGTGTG,GTGTGTGTGTGTCTG,GTGTGTGTGTGTG,GTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTG [Show Flanks]
        Chromosome:
        12:113382868 (GRCh38)
        12:113820674 (GRCh37)
        Canonical SPDI:
        NC_000012.12:113382868::CTG,NC_000012.12:113382868::G,NC_000012.12:113382868::GTG,NC_000012.12:113382868::GTGG,NC_000012.12:113382868::GTGTG,NC_000012.12:113382868::GTGTGTC,NC_000012.12:113382868::GTGTGTCTG,NC_000012.12:113382868::GTGTGTG,NC_000012.12:113382868::GTGTGTGTCTG,NC_000012.12:113382868::GTGTGTGTCTGTG,NC_000012.12:113382868::GTGTGTGTG,NC_000012.12:113382868::GTGTGTGTGTCTG,NC_000012.12:113382868::GTGTGTGTGTG,NC_000012.12:113382868::GTGTGTGTGTGTCTG,NC_000012.12:113382868::GTGTGTGTGTGTG,NC_000012.12:113382868::GTGTGTGTGTGTGTG,NC_000012.12:113382868::GTGTGTGTGTGTGTGTG,NC_000012.12:113382868::GTGTGTGTGTGTGTGTGTG
        Gene:
        PLBD2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        HGVS:
        NC_000012.12:g.113382868_113382869insCTG, NC_000012.12:g.113382868_113382869insG, NC_000012.12:g.113382868_113382869insGTG, NC_000012.12:g.113382868_113382869insGTGG, NC_000012.12:g.113382868_113382869insGTGTG, NC_000012.12:g.113382868_113382869insGTGTGTC, NC_000012.12:g.113382868_113382869insGTGTGTCTG, NC_000012.12:g.113382868_113382869insGTGTGTG, NC_000012.12:g.113382868_113382869insGTGTGTGTCTG, NC_000012.12:g.113382868_113382869insGTGTGTGTCTGTG, NC_000012.12:g.113382868_113382869insGTGTGTGTG, NC_000012.12:g.113382868_113382869insGTGTGTGTGTCTG, NC_000012.12:g.113382868_113382869insGTGTGTGTGTG, NC_000012.12:g.113382868_113382869insGTGTGTGTGTGTCTG, NC_000012.12:g.113382868_113382869insGTGTGTGTGTGTG, NC_000012.12:g.113382868_113382869insGTGTGTGTGTGTGTG, NC_000012.12:g.113382868_113382869insGTGTGTGTGTGTGTGTG, NC_000012.12:g.113382868_113382869insGTGTGTGTGTGTGTGTGTG, NC_000012.11:g.113820673_113820674insCTG, NC_000012.11:g.113820673_113820674insG, NC_000012.11:g.113820673_113820674insGTG, NC_000012.11:g.113820673_113820674insGTGG, NC_000012.11:g.113820673_113820674insGTGTG, NC_000012.11:g.113820673_113820674insGTGTGTC, NC_000012.11:g.113820673_113820674insGTGTGTCTG, NC_000012.11:g.113820673_113820674insGTGTGTG, NC_000012.11:g.113820673_113820674insGTGTGTGTCTG, NC_000012.11:g.113820673_113820674insGTGTGTGTCTGTG, NC_000012.11:g.113820673_113820674insGTGTGTGTG, NC_000012.11:g.113820673_113820674insGTGTGTGTGTCTG, NC_000012.11:g.113820673_113820674insGTGTGTGTGTG, NC_000012.11:g.113820673_113820674insGTGTGTGTGTGTCTG, NC_000012.11:g.113820673_113820674insGTGTGTGTGTGTG, NC_000012.11:g.113820673_113820674insGTGTGTGTGTGTGTG, NC_000012.11:g.113820673_113820674insGTGTGTGTGTGTGTGTG, NC_000012.11:g.113820673_113820674insGTGTGTGTGTGTGTGTGTG
        4.

        rs1491045733 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          12:113361150 (GRCh38)
          12:113798955 (GRCh37)
          Canonical SPDI:
          NC_000012.12:113361149:GA:
          Gene:
          PLBD2 (Varview), LOC105369989 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_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:
          5.

          rs1490884837 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:113379115 (GRCh38)
            12:113816920 (GRCh37)
            Canonical SPDI:
            NC_000012.12:113379114:C:T
            Gene:
            PLBD2 (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            6.

            rs1490802142 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              12:113365899 (GRCh38)
              12:113803704 (GRCh37)
              Canonical SPDI:
              NC_000012.12:113365898:A:G
              Gene:
              PLBD2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490770835 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:113363726 (GRCh38)
                12:113801531 (GRCh37)
                Canonical SPDI:
                NC_000012.12:113363725:A:G
                Gene:
                PLBD2 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1490650160 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:113386411 (GRCh38)
                  12:113824216 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:113386410:T:C
                  Gene:
                  PLBD2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490602830 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    12:113362808 (GRCh38)
                    12:113800613 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:113362807:T:A
                    Gene:
                    PLBD2 (Varview)
                    Functional Consequence:
                    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:
                    10.

                    rs1490563578 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:113370396 (GRCh38)
                      12:113808201 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:113370395:T:C
                      Gene:
                      PLBD2 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000043/6 (GnomAD)
                      C=0.000094/25 (TOPMED)
                      HGVS:
                      11.

                      rs1490530274 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        12:113370286 (GRCh38)
                        12:113808091 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:113370285:G:A,NC_000012.12:113370285:G:T
                        Gene:
                        PLBD2 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490459223 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:113364309 (GRCh38)
                          12:113802114 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:113364308:C:T
                          Gene:
                          PLBD2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000034/9 (TOPMED)
                          HGVS:
                          13.

                          rs1490354384 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            12:113379005 (GRCh38)
                            12:113816810 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:113379004:T:A,NC_000012.12:113379004:T:C
                            Gene:
                            PLBD2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490321500 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              12:113387240 (GRCh38)
                              12:113825045 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:113387239:C:G
                              Gene:
                              PLBD2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000021/3 (GnomAD)
                              G=0.00003/8 (TOPMED)
                              HGVS:
                              15.

                              rs1490255860 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                12:113380143 (GRCh38)
                                12:113817948 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:113380142:A:G,NC_000012.12:113380142:A:T
                                Gene:
                                PLBD2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                T=0.000342/1 (KOREAN)
                                A=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1490227270 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  12:113372242 (GRCh38)
                                  12:113810047 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:113372241:C:G
                                  Gene:
                                  PLBD2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000019/5 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490076283 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    12:113360582 (GRCh38)
                                    12:113798387 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:113360581:C:G
                                    Gene:
                                    PLBD2 (Varview), LOC105369989 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000142/2 (ALFA)
                                    G=0.000021/3 (GnomAD)
                                    G=0.000023/6 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489912309 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      12:113359571 (GRCh38)
                                      12:113797376 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:113359570:CCC:CC
                                      Gene:
                                      PLBD2 (Varview), LOC105369989 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CC=0.000071/1 (ALFA)
                                      -=0.0001/14 (GnomAD)
                                      -=0.000125/33 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489710148 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:113385333 (GRCh38)
                                        12:113823138 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:113385332:C:T
                                        Gene:
                                        PLBD2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489694286 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:113383133 (GRCh38)
                                          12:113820938 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:113383132:C:T
                                          Gene:
                                          PLBD2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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