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Links from Gene

Items: 1 to 20 of 8169

1.

rs1491449097 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    19:55096953 (GRCh38)
    19:55608321 (GRCh37)
    Canonical SPDI:
    NC_000019.10:55096952:CT:
    Gene:
    PPP1R12C (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491369462 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      19:55104180 (GRCh38)
      19:55615548 (GRCh37)
      Canonical SPDI:
      NC_000019.10:55104179:GT:
      Gene:
      PPP1R12C (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00034/4 (ALFA)
      -=0.00029/8 (TOMMO)
      -=0.0177/1701 (GnomAD)
      HGVS:
      3.

      rs1491211229 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->CG [Show Flanks]
        Chromosome:
        19:55096953 (GRCh38)
        19:55608322 (GRCh37)
        Canonical SPDI:
        NC_000019.10:55096953::CG
        Gene:
        PPP1R12C (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        CG=0.00144/17 (TOMMO)
        HGVS:
        4.

        rs1491024965 has merged into rs60249213 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>-,GTGT [Show Flanks]
          Chromosome:
          19:55119394 (GRCh38)
          19:55630762 (GRCh37)
          Canonical SPDI:
          NC_000019.10:55119392:TGT:T,NC_000019.10:55119392:TGT:TGTGT
          Gene:
          PPP1R12C (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00008/1 (ALFA)
          -=0.00004/3 (GnomAD)
          -=0.00032/9 (TOMMO)
          HGVS:
          5.

          rs1490930946 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:55115830 (GRCh38)
            19:55627198 (GRCh37)
            Canonical SPDI:
            NC_000019.10:55115829:C:T
            Gene:
            PPP1R12C (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490783642 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              19:55117674 (GRCh38)
              19:55629042 (GRCh37)
              Canonical SPDI:
              NC_000019.10:55117673:C:A,NC_000019.10:55117673:C:T
              Gene:
              PPP1R12C (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000162/3 (ALFA)
              A=0.000004/1 (TOPMED)
              T=0.000015/2 (GnomAD)
              T=0.00067/3 (Estonian)
              HGVS:
              7.

              rs1490691218 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                G>C
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1490440842 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  19:55115373 (GRCh38)
                  19:55626741 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:55115372:A:C
                  Gene:
                  PPP1R12C (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490428013 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:55099115 (GRCh38)
                    19:55610483 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:55099114:A:G
                    Gene:
                    PPP1R12C (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0./0 (GnomAD)
                    HGVS:
                    10.
                    11.

                    rs1490347516 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      19:55101243 (GRCh38)
                      19:55612611 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:55101242:T:A,NC_000019.10:55101242:T:C
                      Gene:
                      PPP1R12C (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000014/2 (GnomAD)
                      C=0.000015/4 (TOPMED)
                      HGVS:
                      12.

                      rs1490191966 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        19:55101433 (GRCh38)
                        19:55612801 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:55101432:G:C
                        Gene:
                        PPP1R12C (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1489935763 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:55098808 (GRCh38)
                          19:55610176 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:55098807:C:T
                          Gene:
                          PPP1R12C (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000085/3 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          14.

                          rs1489872679 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CG [Show Flanks]
                            Chromosome:
                            19:55114511 (GRCh38)
                            19:55625880 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:55114511:G:GCG
                            Gene:
                            PPP1R12C (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GCG=0./0 (ALFA)
                            GC=0.000034/9 (TOPMED)
                            GC=0.000064/9 (GnomAD)
                            HGVS:
                            15.

                            rs1489842478 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:55102105 (GRCh38)
                              19:55613473 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:55102104:G:A
                              Gene:
                              PPP1R12C (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1489706955 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:55100051 (GRCh38)
                                19:55611419 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:55100050:G:A
                                Gene:
                                PPP1R12C (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                17.

                                rs1489467717 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:55117590 (GRCh38)
                                  19:55628958 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:55117589:C:T
                                  Gene:
                                  PPP1R12C (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000015/2 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1489343548 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:55111039 (GRCh38)
                                    19:55622407 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:55111038:T:C
                                    Gene:
                                    PPP1R12C (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000022/3 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1489293040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      19:55113009 (GRCh38)
                                      19:55624377 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:55113008:C:A,NC_000019.10:55113008:C:T
                                      Gene:
                                      PPP1R12C (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      C=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      20.

                                      rs1489082754 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        19:55097864 (GRCh38)
                                        19:55609232 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:55097863:G:A,NC_000019.10:55097863:G:C
                                        Gene:
                                        PPP1R12C (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:

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