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Links from Nucleotide

Items: 1 to 20 of 484

1.

rs1489756803 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    22:18536768 (GRCh38)
    22:20386635 (GRCh37)
    Canonical SPDI:
    NC_000022.11:18536767:G:A,NC_000022.11:18536767:G:T
    Gene:
    PI4KAP1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    A=0.000008/1 (GnomAD)
    HGVS:
    2.

    rs1487039211 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      22:18538657 (GRCh38)
      22:20388524 (GRCh37)
      Canonical SPDI:
      NC_000022.11:18538656:C:A,NC_000022.11:18538656:C:T
      Gene:
      PI4KAP1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1486552406 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:18548046 (GRCh38)
        22:20397913 (GRCh37)
        Canonical SPDI:
        NC_000022.11:18548045:G:A
        Gene:
        PI4KAP1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.00002/1 (GnomAD)
        HGVS:
        4.

        rs1486223931 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          22:18547285 (GRCh38)
          22:20397152 (GRCh37)
          Canonical SPDI:
          NC_000022.11:18547284:C:
          Gene:
          PI4KAP1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1485077846 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            22:18537308 (GRCh38)
            22:20387175 (GRCh37)
            Canonical SPDI:
            NC_000022.11:18537307:G:A,NC_000022.11:18537307:G:T
            Gene:
            PI4KAP1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.5/1 (SGDP_PRJ)
            HGVS:
            6.

            rs1482375598 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:18533935 (GRCh38)
              22:20383802 (GRCh37)
              Canonical SPDI:
              NC_000022.11:18533934:G:A
              Gene:
              PI4KAP1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.00005/3 (GnomAD)
              HGVS:
              7.

              rs1481143599 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                22:18538542 (GRCh38)
                22:20388409 (GRCh37)
                Canonical SPDI:
                NC_000022.11:18538541:C:T
                Gene:
                PI4KAP1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.00012/7 (GnomAD)
                HGVS:
                8.

                rs1480361652 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:18537153 (GRCh38)
                  22:20387020 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:18537152:C:T
                  Gene:
                  PI4KAP1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1480199340 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:18537283 (GRCh38)
                    22:20387150 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:18537282:C:T
                    Gene:
                    PI4KAP1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.00007/1 (ALFA)
                    HGVS:
                    10.

                    rs1478765813 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      22:18536943 (GRCh38)
                      22:20386810 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:18536942:T:C
                      Gene:
                      PI4KAP1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1478012370 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:18540602 (GRCh38)
                        22:20390469 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:18540601:G:A
                        Gene:
                        PI4KAP1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.00002/1 (GnomAD)
                        HGVS:
                        12.

                        rs1477338532 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          22:18548676 (GRCh38)
                          22:20398543 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:18548675:C:A
                          Gene:
                          PI4KAP1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1476671058 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            22:18540424 (GRCh38)
                            22:20390291 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:18540423:T:C,NC_000022.11:18540423:T:G
                            Gene:
                            PI4KAP1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0./0 (GnomAD)
                            HGVS:
                            14.

                            rs1476113518 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:18548096 (GRCh38)
                              22:20397963 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:18548095:G:A
                              Gene:
                              PI4KAP1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1476061497 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:18537306 (GRCh38)
                                22:20387173 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:18537305:T:C
                                Gene:
                                PI4KAP1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.00008/1 (ALFA)
                                C=0.00008/7 (GnomAD)
                                HGVS:
                                16.

                                rs1473696330 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  22:18533923 (GRCh38)
                                  22:20383790 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:18533922:G:T
                                  Gene:
                                  PI4KAP1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1473587698 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:18544771 (GRCh38)
                                    22:20394638 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:18544770:G:A
                                    Gene:
                                    PI4KAP1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1473122919 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      22:18536874 (GRCh38)
                                      22:20386742 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:18536874:TTTT:TTTTT
                                      Gene:
                                      PI4KAP1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTT=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1473019251 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        22:18537084 (GRCh38)
                                        22:20386951 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:18537083:G:A
                                        Gene:
                                        PI4KAP1 (Varview)
                                        Functional Consequence:
                                        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:
                                        20.

                                        rs1472181745 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          22:18543678 (GRCh38)
                                          22:20393545 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:18543677:G:A,NC_000022.11:18543677:G:T
                                          Gene:
                                          PI4KAP1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.00006/1 (TOMMO)
                                          A=0.00056/1 (Korea1K)
                                          HGVS:

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