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Links from Gene

Items: 1 to 20 of 2319

1.

rs1490552821 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    20:31948884 (GRCh38)
    20:30536687 (GRCh37)
    Canonical SPDI:
    NC_000020.11:31948883:T:G
    Gene:
    PDRG1 (Varview)
    Functional Consequence:
    splice_acceptor_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1490431062 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      20:31948179 (GRCh38)
      20:30535982 (GRCh37)
      Canonical SPDI:
      NC_000020.11:31948178:T:C
      Gene:
      PDRG1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490340530 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        20:31953489 (GRCh38)
        20:30541292 (GRCh37)
        Canonical SPDI:
        NC_000020.11:31953488:C:G,NC_000020.11:31953488:C:T
        Gene:
        PDRG1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1489731121 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          20:31953351 (GRCh38)
          20:30541154 (GRCh37)
          Canonical SPDI:
          NC_000020.11:31953350:T:G
          Gene:
          PDRG1 (Varview)
          Functional Consequence:
          upstream_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:
          5.

          rs1489520007 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            20:31950983 (GRCh38)
            20:30538786 (GRCh37)
            Canonical SPDI:
            NC_000020.11:31950982:G:A
            Gene:
            PDRG1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1488798785 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              20:31946290 (GRCh38)
              20:30534093 (GRCh37)
              Canonical SPDI:
              NC_000020.11:31946289:T:C
              Gene:
              PDRG1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1488366799 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:31953592 (GRCh38)
                20:30541395 (GRCh37)
                Canonical SPDI:
                NC_000020.11:31953591:A:G
                Gene:
                PDRG1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1487254868 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  20:31951892 (GRCh38)
                  20:30539695 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:31951891:G:A
                  Gene:
                  PDRG1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  HGVS:
                  9.

                  rs1487254605 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    20:31947837 (GRCh38)
                    20:30535640 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:31947836:C:A
                    Gene:
                    PDRG1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000023/6 (TOPMED)
                    HGVS:
                    10.

                    rs1487162118 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      20:31946752 (GRCh38)
                      20:30534555 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:31946751:A:G
                      Gene:
                      PDRG1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1486878853 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        20:31945430 (GRCh38)
                        20:30533233 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:31945429:C:T
                        Gene:
                        PDRG1 (Varview), TTLL9 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1486661538 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          20:31951845 (GRCh38)
                          20:30539648 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:31951844:A:C
                          Gene:
                          PDRG1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          14.

                          rs1486515848 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            20:31948435 (GRCh38)
                            20:30536238 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:31948434:T:C
                            Gene:
                            PDRG1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1486464432 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TAATGTCTCAGA>- [Show Flanks]
                              Chromosome:
                              20:31947382 (GRCh38)
                              20:30535185 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:31947379:GATAATGTCTCAGA:GA
                              Gene:
                              PDRG1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GA=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000011/3 (TOPMED)
                              HGVS:
                              16.

                              rs1485658984 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                20:31946280 (GRCh38)
                                20:30534083 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:31946279:G:A,NC_000020.11:31946279:G:C
                                Gene:
                                PDRG1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1485149878 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  20:31952557 (GRCh38)
                                  20:30540360 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:31952556:G:T
                                  Gene:
                                  PDRG1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000015/4 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1484951956 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    20:31949888 (GRCh38)
                                    20:30537691 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:31949887:T:C
                                    Gene:
                                    PDRG1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000029/4 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1484724956 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      20:31952195 (GRCh38)
                                      20:30539998 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:31952194:T:A,NC_000020.11:31952194:T:G
                                      Gene:
                                      PDRG1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1484516185 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:31946392 (GRCh38)
                                        20:30534195 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:31946391:G:A
                                        Gene:
                                        PDRG1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:

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