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Links from Gene

Items: 1 to 20 of 602

1.

rs1490129086 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:72615381 (GRCh38)
    11:72326425 (GRCh37)
    Canonical SPDI:
    NC_000011.10:72615380:G:A
    Gene:
    PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1486628866 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:72614777 (GRCh38)
      11:72325821 (GRCh37)
      Canonical SPDI:
      NC_000011.10:72614776:G:A
      Gene:
      PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1486322632 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:72615232 (GRCh38)
        11:72326276 (GRCh37)
        Canonical SPDI:
        NC_000011.10:72615231:G:A
        Gene:
        PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        A=0.000034/9 (TOPMED)
        HGVS:
        4.

        rs1486243844 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:72615105 (GRCh38)
          11:72326149 (GRCh37)
          Canonical SPDI:
          NC_000011.10:72615104:G:A
          Gene:
          PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1485592103 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:72615907 (GRCh38)
            11:72326951 (GRCh37)
            Canonical SPDI:
            NC_000011.10:72615906:G:A
            Gene:
            PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0./0 (GnomAD)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1484250993 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              11:72615833 (GRCh38)
              11:72326878 (GRCh37)
              Canonical SPDI:
              NC_000011.10:72615833:AA:AAA
              Gene:
              PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              AAA=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1481947603 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                11:72614947 (GRCh38)
                11:72325991 (GRCh37)
                Canonical SPDI:
                NC_000011.10:72614946:G:A,NC_000011.10:72614946:G:C
                Gene:
                PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1479000526 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  11:72616089 (GRCh38)
                  11:72327133 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:72616088:G:A,NC_000011.10:72616088:G:C
                  Gene:
                  PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.00007/1 (TOMMO)
                  HGVS:
                  9.

                  rs1478916241 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:72616824 (GRCh38)
                    11:72327868 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:72616823:C:T
                    Gene:
                    PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1478182672 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      11:72616450 (GRCh38)
                      11:72327494 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:72616449:C:G
                      Gene:
                      PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1478136576 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        11:72615495 (GRCh38)
                        11:72326539 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:72615494:G:T
                        Gene:
                        PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000019/5 (TOPMED)
                        T=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1477644434 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          11:72614639 (GRCh38)
                          11:72325683 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:72614638:T:A
                          Gene:
                          PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                          Functional Consequence:
                          intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1475644782 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            11:72614960 (GRCh38)
                            11:72326004 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:72614959:C:G,NC_000011.10:72614959:C:T
                            Gene:
                            PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000054/1 (ALFA)
                            G=0.000036/5 (GnomAD)
                            G=0.000156/1 (1000Genomes)
                            G=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1470112879 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:72615154 (GRCh38)
                              11:72326198 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:72615153:A:G
                              Gene:
                              PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1469111990 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                11:72616442 (GRCh38)
                                11:72327486 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:72616441:G:C
                                Gene:
                                PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1467713883 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  11:72614594 (GRCh38)
                                  11:72325638 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:72614593:G:A,NC_000011.10:72614593:G:T
                                  Gene:
                                  PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,intron_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1465258900 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:72616053 (GRCh38)
                                    11:72327097 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:72616052:G:A
                                    Gene:
                                    PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1464878607 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:72615986 (GRCh38)
                                      11:72327030 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:72615985:G:A
                                      Gene:
                                      PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1464857968 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        11:72615597 (GRCh38)
                                        11:72326641 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:72615596:A:C
                                        Gene:
                                        PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.00006/1 (TOMMO)
                                        C=0.00218/4 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1464705950 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          11:72617046 (GRCh38)
                                          11:72328090 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:72617045:C:A
                                          Gene:
                                          PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_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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