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Links from Gene

Items: 1 to 20 of 9892

1.

rs1491587737 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TCAC,TCACAC,TCACACAC,TCACACACAC [Show Flanks]
    Chromosome:
    8:56533074 (GRCh38)
    8:57445634 (GRCh37)
    Canonical SPDI:
    NC_000008.11:56533074:C:CTCAC,NC_000008.11:56533074:C:CTCACAC,NC_000008.11:56533074:C:CTCACACAC,NC_000008.11:56533074:C:CTCACACACAC
    Gene:
    LINC00968 (Varview), PENK-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTCACAC=0./0 (ALFA)
    HGVS:
    2.

    rs1491548293 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TA [Show Flanks]
      Chromosome:
      8:56518420 (GRCh38)
      8:57430980 (GRCh37)
      Canonical SPDI:
      NC_000008.11:56518420:ATATATATATA:ATATATATATATA
      Gene:
      LINC00968 (Varview), PENK-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATATATATATATA=0./0 (ALFA)
      AT=0.000021/3 (GnomAD)
      AT=0.000023/6 (TOPMED)
      HGVS:
      3.

      rs1491323528 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        8:56532502 (GRCh38)
        8:57445062 (GRCh37)
        Canonical SPDI:
        NC_000008.11:56532502:TTTTTT:TTTTTTT
        Gene:
        LINC00968 (Varview), PENK-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTTTTT=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1491273938 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TC>- [Show Flanks]
          Chromosome:
          8:56533074 (GRCh38)
          8:57445633 (GRCh37)
          Canonical SPDI:
          NC_000008.11:56533073:TC:
          Gene:
          LINC00968 (Varview), PENK-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491098201 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->TACACACA
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1490997887 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              8:56526257 (GRCh38)
              8:57438816 (GRCh37)
              Canonical SPDI:
              NC_000008.11:56526256:T:C
              Gene:
              LINC00968 (Varview), PENK-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490981987 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:56539684 (GRCh38)
                8:57452243 (GRCh37)
                Canonical SPDI:
                NC_000008.11:56539683:G:A
                Gene:
                LINC00968 (Varview), PENK-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490948442 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  8:56523674 (GRCh38)
                  8:57436233 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:56523673:G:C
                  Gene:
                  LINC00968 (Varview), PENK-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490926450 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    8:56540471 (GRCh38)
                    8:57453030 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:56540470:G:T
                    Gene:
                    LINC00968 (Varview), PENK-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490916964 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      8:56558013 (GRCh38)
                      8:57470572 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:56558012:A:G
                      Gene:
                      LINC00968 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490907573 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        8:56554307 (GRCh38)
                        8:57466866 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:56554306:T:G
                        Gene:
                        LINC00968 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490901796 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          8:56555082 (GRCh38)
                          8:57467641 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:56555081:G:T
                          Gene:
                          LINC00968 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.002013/9 (ALFA)
                          T=0.000043/6 (GnomAD)
                          T=0.002009/9 (Estonian)
                          HGVS:
                          13.

                          rs1490882258 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            8:56555540 (GRCh38)
                            8:57468099 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:56555539:C:A,NC_000008.11:56555539:C:T
                            Gene:
                            LINC00968 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.00007/1 (ALFA)
                            HGVS:
                            14.

                            rs1490577470 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:56532186 (GRCh38)
                              8:57444745 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:56532185:C:T
                              Gene:
                              LINC00968 (Varview), PENK-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490561625 has merged into rs371054390 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                                Chromosome:
                                8:56533097 (GRCh38)
                                8:57445656 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:56533074:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                                Gene:
                                LINC00968 (Varview), PENK-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CACACACACACACACACACACACA=0./0 (ALFA)
                                HGVS:
                                NC_000008.11:g.56533075CA[11], NC_000008.11:g.56533075CA[12], NC_000008.11:g.56533075CA[13], NC_000008.11:g.56533075CA[14], NC_000008.11:g.56533075CA[15], NC_000008.11:g.56533075CA[16], NC_000008.11:g.56533075CA[17], NC_000008.11:g.56533075CA[18], NC_000008.11:g.56533075CA[19], NC_000008.11:g.56533075CA[20], NC_000008.11:g.56533075CA[21], NC_000008.11:g.56533075CA[23], NC_000008.11:g.56533075CA[24], NC_000008.11:g.56533075CA[25], NC_000008.11:g.56533075CA[26], NC_000008.11:g.56533075CA[27], NC_000008.11:g.56533075CA[28], NC_000008.11:g.56533075CA[29], NC_000008.11:g.56533075CA[30], NC_000008.11:g.56533075CA[31], NC_000008.11:g.56533075CA[33], NC_000008.10:g.57445634CA[11], NC_000008.10:g.57445634CA[12], NC_000008.10:g.57445634CA[13], NC_000008.10:g.57445634CA[14], NC_000008.10:g.57445634CA[15], NC_000008.10:g.57445634CA[16], NC_000008.10:g.57445634CA[17], NC_000008.10:g.57445634CA[18], NC_000008.10:g.57445634CA[19], NC_000008.10:g.57445634CA[20], NC_000008.10:g.57445634CA[21], NC_000008.10:g.57445634CA[23], NC_000008.10:g.57445634CA[24], NC_000008.10:g.57445634CA[25], NC_000008.10:g.57445634CA[26], NC_000008.10:g.57445634CA[27], NC_000008.10:g.57445634CA[28], NC_000008.10:g.57445634CA[29], NC_000008.10:g.57445634CA[30], NC_000008.10:g.57445634CA[31], NC_000008.10:g.57445634CA[33]
                                16.

                                rs1490491550 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:56539413 (GRCh38)
                                  8:57451972 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:56539412:C:T
                                  Gene:
                                  LINC00968 (Varview), PENK-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490463384 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    8:56552801 (GRCh38)
                                    8:57465360 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:56552800:A:T
                                    Gene:
                                    LINC00968 (Varview)
                                    Functional Consequence:
                                    intron_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.

                                    rs1490417504 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      8:56553711 (GRCh38)
                                      8:57466270 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:56553710:G:C
                                      Gene:
                                      LINC00968 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490220474 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        8:56541943 (GRCh38)
                                        8:57454502 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:56541942:T:C
                                        Gene:
                                        LINC00968 (Varview), PENK-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490195455 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          8:56538548 (GRCh38)
                                          8:57451107 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:56538547:G:T
                                          Gene:
                                          LINC00968 (Varview), PENK-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.00003/8 (TOPMED)
                                          HGVS:

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