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Links from Gene

Items: 1 to 20 of 1367

1.

rs1490452550 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:8252853 (GRCh38)
    20:8233499 (GRCh37)
    Canonical SPDI:
    NC_000020.11:8252852:C:T
    Gene:
    PLCB1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489925815 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      20:8247200 (GRCh38)
      20:8227847 (GRCh37)
      Canonical SPDI:
      NC_000020.11:8247199:G:A
      Gene:
      PLCB1 (Varview), PLCB1-IT1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1489258884 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TCAGTGTAGG>- [Show Flanks]
        Chromosome:
        20:8246629 (GRCh38)
        20:8227276 (GRCh37)
        Canonical SPDI:
        NC_000020.11:8246628:TCAGTGTAGG:
        Gene:
        PLCB1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487831277 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          20:8249352 (GRCh38)
          20:8229999 (GRCh37)
          Canonical SPDI:
          NC_000020.11:8249351:A:G
          Gene:
          PLCB1 (Varview), PLCB1-IT1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1486607982 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            20:8248066 (GRCh38)
            20:8228713 (GRCh37)
            Canonical SPDI:
            NC_000020.11:8248065:G:A
            Gene:
            PLCB1 (Varview), PLCB1-IT1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1486214115 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              20:8250360 (GRCh38)
              20:8231007 (GRCh37)
              Canonical SPDI:
              NC_000020.11:8250359:T:C
              Gene:
              PLCB1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1485038656 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                20:8251282 (GRCh38)
                20:8231929 (GRCh37)
                Canonical SPDI:
                NC_000020.11:8251281:G:C,NC_000020.11:8251281:G:T
                Gene:
                PLCB1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1484744888 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  20:8246776 (GRCh38)
                  20:8227423 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:8246775:T:C
                  Gene:
                  PLCB1 (Varview), PLCB1-IT1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484418249 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G,T [Show Flanks]
                    Chromosome:
                    20:8246588 (GRCh38)
                    20:8227235 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:8246587:A:C,NC_000020.11:8246587:A:G,NC_000020.11:8246587:A:T
                    Gene:
                    PLCB1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1484165141 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:8248181 (GRCh38)
                      20:8228828 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:8248180:G:A
                      Gene:
                      PLCB1 (Varview), PLCB1-IT1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484155023 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:8247056 (GRCh38)
                        20:8227703 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:8247055:G:A
                        Gene:
                        PLCB1 (Varview), PLCB1-IT1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000084/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1483683462 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          20:8248032 (GRCh38)
                          20:8228679 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:8248031:G:C
                          Gene:
                          PLCB1 (Varview), PLCB1-IT1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1483590272 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            20:8246895 (GRCh38)
                            20:8227542 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:8246894:A:G
                            Gene:
                            PLCB1 (Varview), PLCB1-IT1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            G=0.000849/14 (TOMMO)
                            HGVS:
                            14.

                            rs1483185440 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              20:8247653 (GRCh38)
                              20:8228300 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:8247652:C:A
                              Gene:
                              PLCB1 (Varview), PLCB1-IT1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1483175798 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                20:8246496 (GRCh38)
                                20:8227143 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:8246495:A:G
                                Gene:
                                PLCB1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483037647 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:8249089 (GRCh38)
                                  20:8229736 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:8249088:C:T
                                  Gene:
                                  PLCB1 (Varview), PLCB1-IT1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482944567 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    20:8247922 (GRCh38)
                                    20:8228569 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:8247921:T:G
                                    Gene:
                                    PLCB1 (Varview), PLCB1-IT1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482557329 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      20:8248678 (GRCh38)
                                      20:8229325 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:8248677:G:C
                                      Gene:
                                      PLCB1 (Varview), PLCB1-IT1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481945159 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        20:8250448 (GRCh38)
                                        20:8231095 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:8250447:G:C
                                        Gene:
                                        PLCB1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481341969 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          20:8249196 (GRCh38)
                                          20:8229843 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:8249195:A:G
                                          Gene:
                                          PLCB1 (Varview), PLCB1-IT1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:

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