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Items: 1 to 20 of 543

1.

rs1490976590 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:27834489 (GRCh38)
    1:28161000 (GRCh37)
    Canonical SPDI:
    NC_000001.11:27834488:A:G
    Gene:
    PPP1R8 (Varview), SCARNA1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489835708 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      1:27835027 (GRCh38)
      1:28161538 (GRCh37)
      Canonical SPDI:
      NC_000001.11:27835026:A:T
      Gene:
      PPP1R8 (Varview), SCARNA1 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489549169 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:27833455 (GRCh38)
        1:28159966 (GRCh37)
        Canonical SPDI:
        NC_000001.11:27833454:T:C
        Gene:
        PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000094/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1486684866 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          1:27834906 (GRCh38)
          1:28161417 (GRCh37)
          Canonical SPDI:
          NC_000001.11:27834905:T:
          Gene:
          PPP1R8 (Varview), SCARNA1 (Varview)
          Functional Consequence:
          intron_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1486328739 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:27834451 (GRCh38)
            1:28160962 (GRCh37)
            Canonical SPDI:
            NC_000001.11:27834450:C:T
            Gene:
            PPP1R8 (Varview), SCARNA1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1486179552 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:27833492 (GRCh38)
              1:28160003 (GRCh37)
              Canonical SPDI:
              NC_000001.11:27833491:C:G
              Gene:
              PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1485200435 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:27833130 (GRCh38)
                1:28159641 (GRCh37)
                Canonical SPDI:
                NC_000001.11:27833129:C:A
                Gene:
                PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1484055456 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  1:27834405 (GRCh38)
                  1:28160916 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:27834404:A:T
                  Gene:
                  PPP1R8 (Varview), SCARNA1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1481720949 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    1:27834370 (GRCh38)
                    1:28160881 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:27834369:A:C
                    Gene:
                    PPP1R8 (Varview), SCARNA1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1480424811 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GAGATAACCAGGTA>- [Show Flanks]
                      Chromosome:
                      1:27833840 (GRCh38)
                      1:28160351 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:27833836:GTAGAGATAACCAGGTA:GTA
                      Gene:
                      PPP1R8 (Varview), SCARNA1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GTA=0.000071/1 (ALFA)
                      -=0.000011/3 (TOPMED)
                      -=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1479964855 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:27834606 (GRCh38)
                        1:28161117 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:27834605:C:T
                        Gene:
                        PPP1R8 (Varview), SCARNA1 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,intron_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1478364978 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:27835034 (GRCh38)
                          1:28161545 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:27835033:C:T
                          Gene:
                          PPP1R8 (Varview), SCARNA1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1478302682 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            1:27834101 (GRCh38)
                            1:28160613 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:27834101::A
                            Gene:
                            PPP1R8 (Varview), SCARNA1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1476854092 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              1:27832582 (GRCh38)
                              1:28159094 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:27832582:T:TT
                              Gene:
                              PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TT=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1476019022 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                1:27834278 (GRCh38)
                                1:28160789 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:27834277:C:A,NC_000001.11:27834277:C:T
                                Gene:
                                PPP1R8 (Varview), SCARNA1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                T=0.000071/2 (TOMMO)
                                HGVS:
                                16.

                                rs1475191640 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:27833218 (GRCh38)
                                  1:28159729 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:27833217:C:G
                                  Gene:
                                  PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1473614780 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    1:27832856 (GRCh38)
                                    1:28159367 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:27832855:A:C,NC_000001.11:27832855:A:G
                                    Gene:
                                    PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000054/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1472242622 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,T [Show Flanks]
                                      Chromosome:
                                      1:27833862 (GRCh38)
                                      1:28160373 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:27833861:A:C,NC_000001.11:27833861:A:T
                                      Gene:
                                      PPP1R8 (Varview), SCARNA1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1471916162 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        1:27833271 (GRCh38)
                                        1:28159782 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:27833270:G:A,NC_000001.11:27833270:G:C
                                        Gene:
                                        PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1469314887 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          1:27834797 (GRCh38)
                                          1:28161308 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:27834796:C:A
                                          Gene:
                                          PPP1R8 (Varview), SCARNA1 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant,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:

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