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Links from Nucleotide

Items: 1 to 20 of 1000

1.

rs1490941590 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    16:15125691 (GRCh38)
    16:15219548 (GRCh37)
    Canonical SPDI:
    NC_000016.10:15125690:C:G
    Gene:
    PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000005/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1490889734 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:15127491 (GRCh38)
      16:15221348 (GRCh37)
      Canonical SPDI:
      NC_000016.10:15127490:G:A
      Gene:
      PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000006/1 (GnomAD_exomes)
      A=0.000014/2 (GnomAD)
      A=0.000038/10 (TOPMED)
      HGVS:
      3.

      rs1490831801 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:15135306 (GRCh38)
        16:15229163 (GRCh37)
        Canonical SPDI:
        NC_000016.10:15135305:G:A
        Gene:
        PDXDC1 (Varview), MIR6511B2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1490442831 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:15131414 (GRCh38)
          16:15225271 (GRCh37)
          Canonical SPDI:
          NC_000016.10:15131413:G:A
          Gene:
          PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1490266928 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:15135697 (GRCh38)
            16:15229554 (GRCh37)
            Canonical SPDI:
            NC_000016.10:15135696:G:A
            Gene:
            PDXDC1 (Varview), MIR6511B2 (Varview)
            Functional Consequence:
            2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000108/2 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1489773612 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              16:15106138 (GRCh38)
              16:15199995 (GRCh37)
              Canonical SPDI:
              NC_000016.10:15106137:C:A,NC_000016.10:15106137:C:T
              Gene:
              PDXDC1 (Varview), LOC100505915 (Varview), PKD1P6-NPIPP1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.00002/1 (GnomAD_exomes)
              T=0.00003/2 (GnomAD)
              HGVS:
              7.

              rs1489343377 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                16:15135744 (GRCh38)
                16:15229601 (GRCh37)
                Canonical SPDI:
                NC_000016.10:15135743:G:T
                Gene:
                PDXDC1 (Varview), MIR6511B2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1488848473 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  16:15107385 (GRCh38)
                  16:15201242 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:15107384:C:A,NC_000016.10:15107384:C:T
                  Gene:
                  PDXDC1 (Varview), LOC100505915 (Varview), PKD1P6-NPIPP1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488393616 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:15128079 (GRCh38)
                    16:15221936 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:15128078:G:A
                    Gene:
                    PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    HGVS:
                    10.

                    rs1487850606 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      16:15136682 (GRCh38)
                      16:15230539 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:15136681:C:A
                      Gene:
                      PDXDC1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487709416 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:15127486 (GRCh38)
                        16:15221343 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:15127485:C:T
                        Gene:
                        PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1487466414 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          16:15136614 (GRCh38)
                          16:15230471 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:15136613:C:A,NC_000016.10:15136613:C:T
                          Gene:
                          PDXDC1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          T=0.000319/5 (TOMMO)
                          HGVS:
                          13.

                          rs1487433758 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:15132736 (GRCh38)
                            16:15226593 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:15132735:C:T
                            Gene:
                            PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000034/9 (TOPMED)
                            T=0.000283/5 (TOMMO)
                            T=0.001371/4 (KOREAN)
                            HGVS:
                            14.

                            rs1487308049 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:15104390 (GRCh38)
                              16:15198247 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:15104389:G:A
                              Gene:
                              PDXDC1 (Varview), LOC100505915 (Varview), PKD1P6-NPIPP1 (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=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1487289616 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                16:15132917 (GRCh38)
                                16:15226774 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:15132916:G:A,NC_000016.10:15132916:G:C
                                Gene:
                                PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1486925630 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  16:15130313 (GRCh38)
                                  16:15224170 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:15130312:C:G,NC_000016.10:15130312:C:T
                                  Gene:
                                  PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486874434 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:15128373 (GRCh38)
                                    16:15222230 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:15128372:C:T
                                    Gene:
                                    PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486775950 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      16:15132689 (GRCh38)
                                      16:15226546 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:15132688:C:A,NC_000016.10:15132688:C:T
                                      Gene:
                                      PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000142/2 (ALFA)
                                      T=0.000034/9 (TOPMED)
                                      T=0.000035/1 (TOMMO)
                                      T=0.000079/11 (GnomAD)
                                      T=0.000156/1 (1000Genomes)
                                      T=0.000685/2 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1486708851 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        16:15130060 (GRCh38)
                                        16:15223917 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:15130059:T:A,NC_000016.10:15130059:T:C
                                        Gene:
                                        PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.00007/1 (ALFA)
                                        C=0.00003/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1486588780 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:15132997 (GRCh38)
                                          16:15226854 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:15132996:C:T
                                          Gene:
                                          PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000021/3 (GnomAD)
                                          T=0.000026/7 (TOPMED)
                                          HGVS:

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