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Items: 1 to 20 of 1978

1.

rs1490989611 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:61205171 (GRCh38)
    11:60972643 (GRCh37)
    Canonical SPDI:
    NC_000011.10:61205170:C:T
    Gene:
    PGA3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490708528 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      11:61205056 (GRCh38)
      11:60972528 (GRCh37)
      Canonical SPDI:
      NC_000011.10:61205055:G:A,NC_000011.10:61205055:G:C
      Gene:
      PGA3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.00018/3 (ALFA)
      A=0.000004/1 (TOPMED)
      C=0.000442/62 (GnomAD)
      HGVS:
      3.

      rs1490406913 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:61207603 (GRCh38)
        11:60975075 (GRCh37)
        Canonical SPDI:
        NC_000011.10:61207602:C:T
        Gene:
        PGA3 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.00028/26 (GnomAD)
        HGVS:
        4.

        rs1490243993 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:61204060 (GRCh38)
          11:60971532 (GRCh37)
          Canonical SPDI:
          NC_000011.10:61204059:G:A
          Gene:
          PGA3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.00008/1 (ALFA)
          A=0.00003/1 (GnomAD_exomes)
          A=0.00006/5 (GnomAD)
          A=0.00007/1 (TOMMO)
          HGVS:
          5.

          rs1489844835 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:61205517 (GRCh38)
            11:60972989 (GRCh37)
            Canonical SPDI:
            NC_000011.10:61205516:C:T
            Gene:
            PGA3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000084/1 (ALFA)
            T=0.000036/5 (GnomAD)
            T=0.000142/2 (TOMMO)
            T=0.000156/1 (1000Genomes)
            T=0.000684/2 (KOREAN)
            T=0.001092/2 (Korea1K)
            HGVS:
            6.

            rs1489793601 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:61206145 (GRCh38)
              11:60973617 (GRCh37)
              Canonical SPDI:
              NC_000011.10:61206144:G:A
              Gene:
              PGA3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.00003/3 (GnomAD)
              HGVS:
              7.

              rs1489726489 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:61202215 (GRCh38)
                11:60969687 (GRCh37)
                Canonical SPDI:
                NC_000011.10:61202214:C:T
                Gene:
                PGA3 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000224/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1489673584 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  11:61203511 (GRCh38)
                  11:60970983 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:61203510:C:G
                  Gene:
                  PGA3 (Varview)
                  Functional Consequence:
                  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:
                  9.

                  rs1489619722 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:61207309 (GRCh38)
                    11:60974781 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:61207308:A:G
                    Gene:
                    PGA3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489558423 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      11:61211492 (GRCh38)
                      11:60978964 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:61211491:TT:T
                      Gene:
                      PGA3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TT=0.000084/1 (ALFA)
                      -=0.000015/2 (GnomAD)
                      -=0.000142/2 (TOMMO)
                      HGVS:
                      11.

                      rs1489026573 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        11:61211627 (GRCh38)
                        11:60979100 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:61211627:CCCCC:CCCCCC
                        Gene:
                        PGA3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CCCCCC=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488824810 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:61202957 (GRCh38)
                          11:60970429 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:61202956:C:G
                          Gene:
                          PGA3 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000337/4 (ALFA)
                          G=0.000064/9 (GnomAD)
                          G=0.000071/1 (TOMMO)
                          G=0.000312/2 (1000Genomes)
                          G=0.000342/1 (KOREAN)
                          HGVS:
                          13.

                          rs1488760901 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            11:61201573 (GRCh38)
                            11:60969045 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:61201572:T:G
                            Gene:
                            PGA3 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1488574182 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:61212415 (GRCh38)
                              11:60979887 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:61212414:G:A
                              Gene:
                              PGA3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.00042/5 (ALFA)
                              A=0.00021/3 (TOMMO)
                              A=0.00221/4 (KOREAN)
                              HGVS:
                              15.

                              rs1488503574 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:61204472 (GRCh38)
                                11:60971944 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:61204471:C:T
                                Gene:
                                PGA3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000084/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488360994 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:61207190 (GRCh38)
                                  11:60974662 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:61207189:G:A
                                  Gene:
                                  PGA3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.00008/1 (ALFA)
                                  A=0.00031/2 (1000Genomes)
                                  A=0.00039/39 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488171222 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:61211283 (GRCh38)
                                    11:60978755 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:61211282:C:T
                                    Gene:
                                    PGA3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1488107916 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      11:61202293 (GRCh38)
                                      11:60969765 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:61202292:T:A,NC_000011.10:61202292:T:G
                                      Gene:
                                      PGA3 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.00003/8 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488072575 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:61204953 (GRCh38)
                                        11:60972425 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:61204952:T:C
                                        Gene:
                                        PGA3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000169/2 (ALFA)
                                        C=0.000064/9 (GnomAD)
                                        C=0.000389/7 (TOMMO)
                                        C=0.000625/4 (1000Genomes)
                                        C=0.001092/2 (Korea1K)
                                        T=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1487857574 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          11:61205071 (GRCh38)
                                          11:60972543 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:61205070:C:G,NC_000011.10:61205070:C:T
                                          Gene:
                                          PGA3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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