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Items: 1 to 20 of 1000

1.

rs1488809585 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    9:124258272 (GRCh38)
    9:127020551 (GRCh37)
    Canonical SPDI:
    NC_000009.12:124258271:G:A,NC_000009.12:124258271:G:C
    Gene:
    NEK6 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    HGVS:
    2.

    rs1488172586 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      9:124258209 (GRCh38)
      9:127020488 (GRCh37)
      Canonical SPDI:
      NC_000009.12:124258208:G:A,NC_000009.12:124258208:G:C,NC_000009.12:124258208:G:T
      Gene:
      NEK6 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      T=0.00103/17 (TOMMO)
      T=0.00291/7 (KOREAN)
      HGVS:
      3.

      rs1488068937 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        9:124260970 (GRCh38)
        9:127023249 (GRCh37)
        Canonical SPDI:
        NC_000009.12:124260969:T:A
        Gene:
        NEK6 (Varview), LOC613206 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487603329 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          9:124258153 (GRCh38)
          9:127020432 (GRCh37)
          Canonical SPDI:
          NC_000009.12:124258152:G:A,NC_000009.12:124258152:G:T
          Gene:
          NEK6 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1487176078 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            9:124258601 (GRCh38)
            9:127020880 (GRCh37)
            Canonical SPDI:
            NC_000009.12:124258600:T:G
            Gene:
            NEK6 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1487084448 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              C>T
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1486806598 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                9:124258443 (GRCh38)
                9:127020722 (GRCh37)
                Canonical SPDI:
                NC_000009.12:124258442:C:A,NC_000009.12:124258442:C:T
                Gene:
                NEK6 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486560775 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:124260111 (GRCh38)
                  9:127022390 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:124260110:G:A
                  Gene:
                  NEK6 (Varview), LOC613206 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1486444229 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    9:124260021 (GRCh38)
                    9:127022300 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:124260020:A:
                    Gene:
                    NEK6 (Varview), LOC613206 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000045/12 (TOPMED)
                    -=0.000068/7 (GnomAD)
                    HGVS:
                    10.

                    rs1484812256 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      9:124258739 (GRCh38)
                      9:127021018 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:124258738:CC:C
                      Gene:
                      NEK6 (Varview), LOC613206 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CC=0./0 (ALFA)
                      -=0.000011/3 (TOPMED)
                      -=0.000043/6 (GnomAD)
                      HGVS:
                      11.

                      rs1483811026 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:124260840 (GRCh38)
                        9:127023119 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:124260839:T:C
                        Gene:
                        NEK6 (Varview), LOC613206 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000011/3 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1483445893 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:124261446 (GRCh38)
                          9:127023725 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:124261445:G:A
                          Gene:
                          NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000026/7 (TOPMED)
                          A=0.000043/6 (GnomAD)
                          HGVS:
                          13.

                          rs1483369830 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:124260373 (GRCh38)
                            9:127022652 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:124260372:G:T
                            Gene:
                            NEK6 (Varview), LOC613206 (Varview)
                            Functional Consequence:
                            genic_upstream_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=0.00003/8 (TOPMED)
                            T=0.000071/1 (TOMMO)
                            T=0.000342/1 (KOREAN)
                            HGVS:
                            14.

                            rs1482757597 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:124263311 (GRCh38)
                              9:127025590 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:124263310:A:G
                              Gene:
                              NEK6 (Varview), LOC124902268 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1482241607 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                9:124262202 (GRCh38)
                                9:127024481 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:124262201:T:G
                                Gene:
                                NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1481833260 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:124259928 (GRCh38)
                                  9:127022207 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:124259927:A:G
                                  Gene:
                                  NEK6 (Varview), LOC613206 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000064/9 (GnomAD)
                                  G=0.000068/18 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1481807829 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:124261901 (GRCh38)
                                    9:127024180 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:124261900:C:T
                                    Gene:
                                    NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481617958 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:124259027 (GRCh38)
                                      9:127021306 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:124259026:G:A
                                      Gene:
                                      NEK6 (Varview), LOC613206 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,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:
                                      19.

                                      rs1481055420 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        9:124263324 (GRCh38)
                                        9:127025603 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:124263323:G:C
                                        Gene:
                                        NEK6 (Varview), LOC124902268 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1480278183 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          9:124261303 (GRCh38)
                                          9:127023582 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:124261302:CCCC:CCC
                                          Gene:
                                          NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CCC=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000531/9 (TOMMO)
                                          HGVS:

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