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Links from Gene

Items: 1 to 20 of 14733

1.

rs1491549178 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    1:20716260 (GRCh38)
    1:21042754 (GRCh37)
    Canonical SPDI:
    NC_000001.11:20716260::C
    Gene:
    KIF17 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1491515384 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TATCTATATATAATATAGATAATATAATATAGATAATAT [Show Flanks]
      Chromosome:
      1:20712683 (GRCh38)
      1:21039177 (GRCh37)
      Canonical SPDI:
      NC_000001.11:20712683:ATAT:ATATTATCTATATATAATATAGATAATATAATATAGATAATAT
      Gene:
      KIF17 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      HGVS:
      3.

      rs1491514138 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        1:20706900 (GRCh38)
        1:21033393 (GRCh37)
        Canonical SPDI:
        NC_000001.11:20706898:AGA:A
        Gene:
        KIF17 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        -=0.00003/8 (TOPMED)
        -=0.000036/5 (GnomAD)
        -=0.001311/37 (TOMMO)
        HGVS:
        4.

        rs1491509538 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          1:20710098 (GRCh38)
          1:21036591 (GRCh37)
          Canonical SPDI:
          NC_000001.11:20710097:CT:
          Gene:
          KIF17 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          HGVS:
          5.

          rs1491492377 has merged into rs397863049 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>-,TTTTT [Show Flanks]
            Chromosome:
            1:20673379 (GRCh38)
            1:20999872 (GRCh37)
            Canonical SPDI:
            NC_000001.11:20673376:TTTT:TT,NC_000001.11:20673376:TTTT:TTTTTTT
            Gene:
            KIF17 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTT=0./0 (ALFA)
            HGVS:
            6.

            rs1491488284 has merged into rs1191328810 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TATATA>-,TATA,TATATATA,TATATATAGATATATATAGATATATATATA,TATATATATA [Show Flanks]
              Chromosome:
              1:20712565 (GRCh38)
              1:21039058 (GRCh37)
              Canonical SPDI:
              NC_000001.11:20712560:TATATATATA:TATA,NC_000001.11:20712560:TATATATATA:TATATATA,NC_000001.11:20712560:TATATATATA:TATATATATATA,NC_000001.11:20712560:TATATATATA:TATATATATATAGATATATATAGATATATATATA,NC_000001.11:20712560:TATATATATA:TATATATATATATA
              Gene:
              KIF17 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TATATATA=0./0 (ALFA)
              -=0.00002/1 (GnomAD)
              TATATATATATAGATATATATAGA=0.00004/1 (TOMMO)
              HGVS:
              7.

              rs1491479128 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                1:20669558 (GRCh38)
                1:20996051 (GRCh37)
                Canonical SPDI:
                NC_000001.11:20669556:ATA:A
                Gene:
                KIF17 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.00004/1 (TOMMO)
                HGVS:
                8.

                rs1491469351 has merged into rs1156951272 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TATATA>-,TATA,TATATATA,TATATATATA [Show Flanks]
                  Chromosome:
                  1:20712635 (GRCh38)
                  1:21039128 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:20712630:TATATATATA:TATA,NC_000001.11:20712630:TATATATATA:TATATATA,NC_000001.11:20712630:TATATATATA:TATATATATATA,NC_000001.11:20712630:TATATATATA:TATATATATATATA
                  Gene:
                  KIF17 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TATATATATATA=0./0 (ALFA)
                  -=0.00187/3 (Korea1K)
                  -=0.00677/108 (TOMMO)
                  HGVS:
                  9.

                  rs1491465020 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    1:20716241 (GRCh38)
                    1:21042734 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:20716240:CA:
                    Gene:
                    KIF17 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00008/1 (ALFA)
                    HGVS:
                    10.

                    rs1491441364 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      >
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491397400 has merged into rs35124380 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AC>-,ACAC,ACACAC,ACACACAC,ACACGCACACACACAC [Show Flanks]
                        Chromosome:
                        1:20695136 (GRCh38)
                        1:21021629 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:20695128:CACACACAC:CACACAC,NC_000001.11:20695128:CACACACAC:CACACACACAC,NC_000001.11:20695128:CACACACAC:CACACACACACAC,NC_000001.11:20695128:CACACACAC:CACACACACACACAC,NC_000001.11:20695128:CACACACAC:CACACACACACGCACACACACAC
                        Gene:
                        KIF17 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CACACACACACACAC=0./0 (ALFA)
                        CA=0.19697/117 (NorthernSweden)
                        CA=0.20467/1025 (1000Genomes)
                        CA=0.43068/789 (Korea1K)
                        CA=0.45545/92 (Vietnamese)
                        HGVS:
                        12.

                        rs1491393899 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TAAT [Show Flanks]
                          Chromosome:
                          1:20669557 (GRCh38)
                          1:20996051 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:20669557:TAAT:TAATTAAT
                          Gene:
                          KIF17 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TAATTAAT=0./0 (ALFA)
                          TAAT=0.000008/1 (GnomAD)
                          TAAT=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1491386654 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TA>- [Show Flanks]
                            Chromosome:
                            1:20669568 (GRCh38)
                            1:20996061 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:20669566:ATA:A
                            Gene:
                            KIF17 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.00135/16 (ALFA)
                            HGVS:
                            14.

                            rs1491378267 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              1:20665219 (GRCh38)
                              1:20991712 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:20665216:CTCT:CT
                              Gene:
                              KIF17 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CTCT=0./0 (ALFA)
                              -=0.00005/3 (GnomAD)
                              HGVS:
                              15.

                              rs1491367385 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GC>-,GCGC [Show Flanks]
                                Chromosome:
                                1:20695138 (GRCh38)
                                1:21021631 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:20695136:CGC:C,NC_000001.11:20695136:CGC:CGCGC
                                Gene:
                                KIF17 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000124/2 (ALFA)
                                -=0.000309/42 (GnomAD)
                                -=0.00092/15 (TOMMO)
                                -=0.012009/22 (Korea1K)
                                -=0.039644/147 (TWINSUK)
                                -=0.047743/184 (ALSPAC)
                                HGVS:
                                16.

                                rs1491300509 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TATAATATAGATAATATTATCTATATATAATATA [Show Flanks]
                                  Chromosome:
                                  1:20712631 (GRCh38)
                                  1:21039125 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:20712631:ATATATATAATATAGATAATATTATCTATATATAATATA:ATATATATAATATAGATAATATTATCTATATATAATATATATAATATAGATAATATTATCTATATATAATATA
                                  Gene:
                                  KIF17 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  HGVS:
                                  17.

                                  rs1491286415 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CTAAA [Show Flanks]
                                    Chromosome:
                                    1:20669567 (GRCh38)
                                    1:20996061 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:20669567:TAAA:TAAACTAAA
                                    Gene:
                                    KIF17 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    18.

                                    rs1491276134 has merged into rs71585780 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      1:20716252 (GRCh38)
                                      1:21042745 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      KIF17 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAA=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.20716252_20716261del, NC_000001.11:g.20716253_20716261del, NC_000001.11:g.20716256_20716261del, NC_000001.11:g.20716257_20716261del, NC_000001.11:g.20716259_20716261del, NC_000001.11:g.20716260_20716261del, NC_000001.11:g.20716261del, NC_000001.11:g.20716261dup, NC_000001.11:g.20716260_20716261dup, NC_000001.11:g.20716259_20716261dup, NC_000001.11:g.20716258_20716261dup, NC_000001.11:g.20716257_20716261dup, NC_000001.11:g.20716256_20716261dup, NC_000001.11:g.20716253_20716261dup, NC_000001.10:g.21042745_21042754del, NC_000001.10:g.21042746_21042754del, NC_000001.10:g.21042749_21042754del, NC_000001.10:g.21042750_21042754del, NC_000001.10:g.21042752_21042754del, NC_000001.10:g.21042753_21042754del, NC_000001.10:g.21042754del, NC_000001.10:g.21042754dup, NC_000001.10:g.21042753_21042754dup, NC_000001.10:g.21042752_21042754dup, NC_000001.10:g.21042751_21042754dup, NC_000001.10:g.21042750_21042754dup, NC_000001.10:g.21042749_21042754dup, NC_000001.10:g.21042746_21042754dup
                                      19.

                                      rs1491267376 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->ATATATATAGATAATATTATCTATATA [Show Flanks]
                                        Chromosome:
                                        1:20712561 (GRCh38)
                                        1:21039055 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:20712561:ATATATATAGATAATATTATCTATATA:ATATATATAGATAATATTATCTATATAATATATATAGATAATATTATCTATATA
                                        Gene:
                                        KIF17 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        ATATATATAGATAATATTATCTATATAATATATATAGATAATATTATCTATATA=0./0 (ALFA)
                                        ATATATATAGATAATATTATCTATATA=0.00078/43 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491257356 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GATGGATG>-,GATG,GATGGATGGATG,GATGGATGGATGGATG,GATGGATGGATGGATGGATG,GATGGATGGATGGATGGATGGATG,GATGGATGGATGGATGGATGGATGGATG,GATGGATGGATGGATGGATGGATGGATGGATGGATGGATG [Show Flanks]
                                          Chromosome:
                                          1:20703491 (GRCh38)
                                          1:21029984 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:20703486:GATGGATGGATG:GATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG
                                          Gene:
                                          KIF17 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GATGGATGGATGGATG=0./0 (ALFA)
                                          GATGGATGGATG=0.000004/1 (TOPMED)
                                          GATG=0.000611/10 (TOMMO)
                                          GATG=0.002738/5 (Korea1K)
                                          HGVS:

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