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Items: 1 to 20 of 1058

1.

rs1490799411 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    15:28789775 (GRCh38)
    15:29034921 (GRCh37)
    Canonical SPDI:
    NC_000015.10:28789774:C:A,NC_000015.10:28789774:C:T
    Gene:
    PDCD6IPP2 (Varview), LOC100289656 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000224/1 (ALFA)
    T=0.000007/1 (GnomAD)
    A=0.000342/1 (KOREAN)
    HGVS:
    2.

    rs1489558348 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      15:28788662 (GRCh38)
      15:29033808 (GRCh37)
      Canonical SPDI:
      NC_000015.10:28788661:T:C
      Gene:
      PDCD6IPP2 (Varview), LOC100289656 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1488321582 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:28787218 (GRCh38)
        15:29032364 (GRCh37)
        Canonical SPDI:
        NC_000015.10:28787217:C:T
        Gene:
        LOC100289656 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.00011/3 (TOMMO)
        HGVS:
        4.

        rs1488208618 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          15:28789206 (GRCh38)
          15:29034352 (GRCh37)
          Canonical SPDI:
          NC_000015.10:28789205:G:C
          Gene:
          PDCD6IPP2 (Varview), LOC100289656 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000016/2 (GnomAD)
          HGVS:
          5.

          rs1487850672 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            15:28788665 (GRCh38)
            15:29033812 (GRCh37)
            Canonical SPDI:
            NC_000015.10:28788665:A:AA
            Gene:
            PDCD6IPP2 (Varview), LOC100289656 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            AA=0./0 (ALFA)
            HGVS:
            6.

            rs1487667965 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:28787965 (GRCh38)
              15:29033111 (GRCh37)
              Canonical SPDI:
              NC_000015.10:28787964:A:G
              Gene:
              PDCD6IPP2 (Varview), LOC100289656 (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:
              7.

              rs1487572548 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                15:28789327 (GRCh38)
                15:29034473 (GRCh37)
                Canonical SPDI:
                NC_000015.10:28789326:C:G
                Gene:
                PDCD6IPP2 (Varview), LOC100289656 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000016/2 (GnomAD)
                HGVS:
                8.

                rs1487445596 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:28788985 (GRCh38)
                  15:29034131 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:28788984:G:A
                  Gene:
                  PDCD6IPP2 (Varview), LOC100289656 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1487388107 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:28786727 (GRCh38)
                    15:29031873 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:28786726:A:G
                    Gene:
                    LOC100289656 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1487304715 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      15:28789634 (GRCh38)
                      15:29034780 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:28789633:G:T
                      Gene:
                      PDCD6IPP2 (Varview), LOC100289656 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486132045 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        15:28788047 (GRCh38)
                        15:29033193 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:28788046:G:A,NC_000015.10:28788046:G:T
                        Gene:
                        PDCD6IPP2 (Varview), LOC100289656 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1485096716 has merged into rs1204977580 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GGGCCCGCCACTTCAGGG>-,GGGCCCGCCACTTCAGGGGGGCCCGCCACTTCAGGG [Show Flanks]
                          Chromosome:
                          15:28788956 (GRCh38)
                          15:29034102 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:28788943:GCCACTTCAGGGGGGCCCGCCACTTCAGGG:GCCACTTCAGGG,NC_000015.10:28788943:GCCACTTCAGGGGGGCCCGCCACTTCAGGG:GCCACTTCAGGGGGGCCCGCCACTTCAGGGGGGCCCGCCACTTCAGGG
                          Gene:
                          PDCD6IPP2 (Varview), LOC100289656 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GCCACTTCAGGGGGGCCCGCCACTTCAGGGGGGCCCGCCACTTCAGGG=0./0 (ALFA)
                          -=0.000022/3 (GnomAD)
                          HGVS:
                          13.

                          rs1484470482 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            15:28786424 (GRCh38)
                            15:29031570 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:28786423:T:C
                            Gene:
                            LOC100289656 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000029/4 (GnomAD)
                            C=0.00003/8 (TOPMED)
                            HGVS:
                            14.

                            rs1484439789 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:28789445 (GRCh38)
                              15:29034591 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:28789444:G:A
                              Gene:
                              PDCD6IPP2 (Varview), LOC100289656 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1484419189 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->GATT [Show Flanks]
                                Chromosome:
                                15:28788145 (GRCh38)
                                15:29033292 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:28788145::GATT
                                Gene:
                                PDCD6IPP2 (Varview), LOC100289656 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                GATT=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483935753 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:28789648 (GRCh38)
                                  15:29034794 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:28789647:C:T
                                  Gene:
                                  PDCD6IPP2 (Varview), LOC100289656 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483745398 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    15:28788824 (GRCh38)
                                    15:29033970 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:28788823:G:A,NC_000015.10:28788823:G:C
                                    Gene:
                                    PDCD6IPP2 (Varview), LOC100289656 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000285/4 (ALFA)
                                    C=0.000035/1 (TOMMO)
                                    A=0.000121/32 (TOPMED)
                                    A=0.000156/1 (1000Genomes)
                                    A=0.000157/22 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483610036 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      15:28789396 (GRCh38)
                                      15:29034542 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:28789395:G:C
                                      Gene:
                                      PDCD6IPP2 (Varview), LOC100289656 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1481587653 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        15:28789086 (GRCh38)
                                        15:29034232 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:28789085:G:C
                                        Gene:
                                        PDCD6IPP2 (Varview), LOC100289656 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1481334171 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          15:28788284 (GRCh38)
                                          15:29033430 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:28788283:G:C
                                          Gene:
                                          PDCD6IPP2 (Varview), LOC100289656 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000142/2 (ALFA)
                                          C=0.000019/5 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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