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Items: 1 to 20 of 538

1.

rs1489814492 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:8831402 (GRCh38)
    20:8812049 (GRCh37)
    Canonical SPDI:
    NC_000020.11:8831401:C:T
    Gene:
    PLCB1 (Varview), RNU105B (Varview)
    Functional Consequence:
    500B_downstream_variant,intron_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1487777531 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      20:8829350 (GRCh38)
      20:8809997 (GRCh37)
      Canonical SPDI:
      NC_000020.11:8829344:GTGTGTG:GTGTG
      Gene:
      PLCB1 (Varview), RNU105B (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTG=0./0 (ALFA)
      -=0.000026/7 (TOPMED)
      -=0.000029/4 (GnomAD)
      -=0.000156/1 (1000Genomes)
      HGVS:
      3.

      rs1485805714 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        20:8830452 (GRCh38)
        20:8811099 (GRCh37)
        Canonical SPDI:
        NC_000020.11:8830451:C:A
        Gene:
        PLCB1 (Varview), RNU105B (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:
        4.

        rs1483624316 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          20:8831873 (GRCh38)
          20:8812520 (GRCh37)
          Canonical SPDI:
          NC_000020.11:8831872:T:C
          Gene:
          PLCB1 (Varview), RNU105B (Varview)
          Functional Consequence:
          500B_downstream_variant,intron_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1483467245 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            20:8830760 (GRCh38)
            20:8811407 (GRCh37)
            Canonical SPDI:
            NC_000020.11:8830759:C:G
            Gene:
            PLCB1 (Varview), RNU105B (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:
            6.

            rs1479410691 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              20:8829828 (GRCh38)
              20:8810475 (GRCh37)
              Canonical SPDI:
              NC_000020.11:8829827:AAA:AA
              Gene:
              PLCB1 (Varview), RNU105B (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AA=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1475290011 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:8830148 (GRCh38)
                20:8810795 (GRCh37)
                Canonical SPDI:
                NC_000020.11:8830147:A:G
                Gene:
                PLCB1 (Varview), RNU105B (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=0.000026/7 (TOPMED)
                HGVS:
                8.

                rs1474999404 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  20:8831617 (GRCh38)
                  20:8812264 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:8831616:A:C
                  Gene:
                  PLCB1 (Varview), RNU105B (Varview)
                  Functional Consequence:
                  500B_downstream_variant,intron_variant,downstream_transcript_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.

                  rs1474844828 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    20:8830525 (GRCh38)
                    20:8811172 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:8830524:GG:G
                    Gene:
                    PLCB1 (Varview), RNU105B (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GG=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1474731841 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      20:8831441 (GRCh38)
                      20:8812088 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:8831440:A:G
                      Gene:
                      PLCB1 (Varview), RNU105B (Varview)
                      Functional Consequence:
                      500B_downstream_variant,intron_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1473384381 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        20:8831380 (GRCh38)
                        20:8812027 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:8831379:T:G
                        Gene:
                        PLCB1 (Varview), RNU105B (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_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:
                        12.

                        rs1473054280 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          20:8830851 (GRCh38)
                          20:8811498 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:8830850:T:C,NC_000020.11:8830850:T:G
                          Gene:
                          PLCB1 (Varview), RNU105B (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1471458770 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            20:8829224 (GRCh38)
                            20:8809871 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:8829223:C:G
                            Gene:
                            PLCB1 (Varview), RNU105B (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1471407968 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              20:8830320 (GRCh38)
                              20:8810967 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:8830319:A:G
                              Gene:
                              PLCB1 (Varview), RNU105B (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1471018889 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                20:8829885 (GRCh38)
                                20:8810532 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:8829884:T:G
                                Gene:
                                PLCB1 (Varview), RNU105B (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1467924957 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  20:8831612 (GRCh38)
                                  20:8812259 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:8831611:A:G
                                  Gene:
                                  PLCB1 (Varview), RNU105B (Varview)
                                  Functional Consequence:
                                  intron_variant,500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1467810873 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:8830507 (GRCh38)
                                    20:8811154 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:8830506:C:T
                                    Gene:
                                    PLCB1 (Varview), RNU105B (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1467102298 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      20:8830776 (GRCh38)
                                      20:8811423 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:8830775:T:G
                                      Gene:
                                      PLCB1 (Varview), RNU105B (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1465562954 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        20:8829494 (GRCh38)
                                        20:8810141 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:8829493:T:A
                                        Gene:
                                        PLCB1 (Varview), RNU105B (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1462542835 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:8830622 (GRCh38)
                                          20:8811269 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:8830621:T:C
                                          Gene:
                                          PLCB1 (Varview), RNU105B (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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