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Items: 1 to 20 of 8168

1.

rs1491583676 has merged into rs202045519 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>-,TATA [Show Flanks]
    Chromosome:
    3:20007008 (GRCh38)
    3:20048500 (GRCh37)
    Canonical SPDI:
    NC_000003.12:20007005:TATA:TA,NC_000003.12:20007005:TATA:TATATA
    Gene:
    PP2D1 (Varview), LOC124909352 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATA=0./0 (ALFA)
    -=0.00003/2 (GnomAD)
    HGVS:
    2.

    rs1491574409 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GT [Show Flanks]
      Chromosome:
      3:20012813 (GRCh38)
      3:20054306 (GRCh37)
      Canonical SPDI:
      NC_000003.12:20012813:T:TGT
      Gene:
      PP2D1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGT=0.00396/47 (ALFA)
      TG=0.0044/412 (GnomAD)
      TG=0.01254/7 (NorthernSweden)
      ...more
      HGVS:
      3.

      rs1491541217 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->ACGT,AT [Show Flanks]
        Chromosome:
        3:20007004 (GRCh38)
        3:20048497 (GRCh37)
        Canonical SPDI:
        NC_000003.12:20007004::ACGT,NC_000003.12:20007004::AT
        Gene:
        PP2D1 (Varview), LOC124909352 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACGT=0./0 (ALFA)
        ACGT=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1491482795 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          3:20012933 (GRCh38)
          3:20054426 (GRCh37)
          Canonical SPDI:
          NC_000003.12:20012933::G
          Gene:
          PP2D1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000078/8 (GnomAD)
          HGVS:
          5.

          rs1491415921 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            3:19985514 (GRCh38)
            3:20027006 (GRCh37)
            Canonical SPDI:
            NC_000003.12:19985513:TA:
            Gene:
            RAB5A (Varview), PP2D1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,frameshift_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency
            MAF:
            -=0.000007/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1491412799 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              3:20012939 (GRCh38)
              3:20054431 (GRCh37)
              Canonical SPDI:
              NC_000003.12:20012932:ATATATAT:ATATAT
              Gene:
              PP2D1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              ATATAT=0./0 (ALFA)
              -=0.00004/3 (GnomAD)
              HGVS:
              7.

              rs1491120101 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                3:19985514 (GRCh38)
                3:20027007 (GRCh37)
                Canonical SPDI:
                NC_000003.12:19985514:A:AA
                Gene:
                RAB5A (Varview), PP2D1 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,stop_gained
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AA=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                ...more
                HGVS:
                8.

                rs1491084504 has merged into rs35816290 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
                  Chromosome:
                  3:19999558 (GRCh38)
                  3:20041050 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
                  Gene:
                  PP2D1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTTTT=0.0002/2 (ALFA)
                  -=0.1954/753 (ALSPAC)
                  -=0.199/738 (TWINSUK)
                  -=0.2408/1206 (1000Genomes)
                  ...more
                  HGVS:
                  9.

                  rs1491058015 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->T [Show Flanks]
                    Chromosome:
                    3:19987053 (GRCh38)
                    3:20028546 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:19987053::T
                    Gene:
                    PP2D1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491026180 has merged into rs1553641812 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CACA>-,CA,CACACA [Show Flanks]
                      Chromosome:
                      3:20012922 (GRCh38)
                      3:20054414 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:20012920:ACACA:A,NC_000003.12:20012920:ACACA:ACA,NC_000003.12:20012920:ACACA:ACACACA
                      Gene:
                      PP2D1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ACACACA=0./0 (ALFA)
                      -=0.00333/6 (Korea1K)
                      HGVS:
                      11.

                      rs1491015021 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GA>- [Show Flanks]
                        Chromosome:
                        3:19983364 (GRCh38)
                        3:20024856 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:19983362:AGA:A
                        Gene:
                        RAB5A (Varview), PP2D1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        -=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490898282 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:19987172 (GRCh38)
                          3:20028664 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:19987171:A:G
                          Gene:
                          PP2D1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490848342 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:20006358 (GRCh38)
                            3:20047850 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:20006357:A:G
                            Gene:
                            PP2D1 (Varview), LOC124909352 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490834384 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:20013691 (GRCh38)
                              3:20055183 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:20013690:C:T
                              Gene:
                              PP2D1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490791324 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                3:19986971 (GRCh38)
                                3:20028463 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:19986970:A:T
                                Gene:
                                PP2D1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1490749206 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:19984193 (GRCh38)
                                  3:20025685 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:19984192:C:T
                                  Gene:
                                  RAB5A (Varview), PP2D1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,splice_donor_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1490630440 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    3:19997757 (GRCh38)
                                    3:20039249 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:19997756:G:T
                                    Gene:
                                    PP2D1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490575749 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:19996846 (GRCh38)
                                      3:20038338 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:19996845:C:T
                                      Gene:
                                      PP2D1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1490565001 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:20008242 (GRCh38)
                                        3:20049734 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:20008241:A:G
                                        Gene:
                                        PP2D1 (Varview), LOC124909352 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490515614 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:19982971 (GRCh38)
                                          3:20024463 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:19982970:G:A
                                          Gene:
                                          RAB5A (Varview), PP2D1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          ...more
                                          HGVS:

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