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Items: 1 to 20 of 1000

1.

rs1491505934 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    15:52771437 (GRCh38)
    15:53063635 (GRCh37)
    Canonical SPDI:
    NC_000015.10:52771437:T:TT
    Gene:
    ONECUT1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0./0 (ALFA)
    T=0.00329/47 (GnomAD)
    HGVS:
    2.

    rs1491370452 has merged into rs1555416122 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      15:52777741 (GRCh38)
      15:53069938 (GRCh37)
      Canonical SPDI:
      NC_000015.10:52777737:AAAAAAA:AAA,NC_000015.10:52777737:AAAAAAA:AAAA,NC_000015.10:52777737:AAAAAAA:AAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52777737:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      ONECUT1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAA=0./0 (ALFA)
      HGVS:
      NC_000015.10:g.52777741_52777744del, NC_000015.10:g.52777742_52777744del, NC_000015.10:g.52777743_52777744del, NC_000015.10:g.52777744del, NC_000015.10:g.52777744dup, NC_000015.10:g.52777743_52777744dup, NC_000015.10:g.52777742_52777744dup, NC_000015.10:g.52777741_52777744dup, NC_000015.10:g.52777740_52777744dup, NC_000015.10:g.52777739_52777744dup, NC_000015.10:g.52777738_52777744dup, NC_000015.10:g.52777744_52777745insAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.52777744_52777745insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.53069938_53069941del, NC_000015.9:g.53069939_53069941del, NC_000015.9:g.53069940_53069941del, NC_000015.9:g.53069941del, NC_000015.9:g.53069941dup, NC_000015.9:g.53069940_53069941dup, NC_000015.9:g.53069939_53069941dup, NC_000015.9:g.53069938_53069941dup, NC_000015.9:g.53069937_53069941dup, NC_000015.9:g.53069936_53069941dup, NC_000015.9:g.53069935_53069941dup, NC_000015.9:g.53069941_53069942insAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.53069941_53069942insAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491354509 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AT [Show Flanks]
        Chromosome:
        15:52766236 (GRCh38)
        15:53058434 (GRCh37)
        Canonical SPDI:
        NC_000015.10:52766236:T:TAT
        Gene:
        ONECUT1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TAT=0.0016/19 (ALFA)
        TA=0.00461/338 (GnomAD)
        HGVS:
        4.

        rs1491141859 has merged into rs76480336 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
          Chromosome:
          15:52766247 (GRCh38)
          15:53058444 (GRCh37)
          Canonical SPDI:
          NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:52766235:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
          Gene:
          ONECUT1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.11167/67 (NorthernSweden)
          -=0.125/5 (GENOME_DK)
          HGVS:
          5.

          rs1490985586 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            15:52760105 (GRCh38)
            15:53052302 (GRCh37)
            Canonical SPDI:
            NC_000015.10:52760104:A:G
            Gene:
            ONECUT1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490857369 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              15:52758998 (GRCh38)
              15:53051195 (GRCh37)
              Canonical SPDI:
              NC_000015.10:52758997:G:T
              Gene:
              ONECUT1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490725101 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:52770686 (GRCh38)
                15:53062883 (GRCh37)
                Canonical SPDI:
                NC_000015.10:52770685:A:G
                Gene:
                ONECUT1 (Varview)
                Functional Consequence:
                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:
                8.

                rs1490713599 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  A>G
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  9.

                  rs1490693910 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:52782635 (GRCh38)
                    15:53074832 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:52782634:T:C
                    Gene:
                    ONECUT1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490688980 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:52770900 (GRCh38)
                      15:53063097 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:52770899:T:C
                      Gene:
                      ONECUT1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000071/10 (GnomAD)
                      HGVS:
                      11.

                      rs1490498329 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:52786200 (GRCh38)
                        15:53078397 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:52786199:A:G
                        Gene:
                        ONECUT1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000342/1 (KOREAN)
                        HGVS:
                        12.

                        rs1490450095 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          15:52775627 (GRCh38)
                          15:53067824 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:52775626:A:C
                          Gene:
                          ONECUT1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1490365688 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            15:52758521 (GRCh38)
                            15:53050718 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:52758520:G:A,NC_000015.10:52758520:G:T
                            Gene:
                            ONECUT1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490348904 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:52790667 (GRCh38)
                              15:53082864 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:52790666:C:T
                              Gene:
                              ONECUT1 (Varview), LOC105370824 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490323028 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                15:52790097 (GRCh38)
                                15:53082294 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:52790096:C:G,NC_000015.10:52790096:C:T
                                Gene:
                                ONECUT1 (Varview), LOC105370824 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490166107 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  15:52784122 (GRCh38)
                                  15:53076319 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:52784121:C:A
                                  Gene:
                                  ONECUT1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490154469 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    15:52761748 (GRCh38)
                                    15:53053945 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:52761747:G:T
                                    Gene:
                                    ONECUT1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490007357 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      15:52785407 (GRCh38)
                                      15:53077604 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:52785406:G:T
                                      Gene:
                                      ONECUT1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489891645 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        15:52789255 (GRCh38)
                                        15:53081452 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:52789254:G:T
                                        Gene:
                                        ONECUT1 (Varview), LOC105370824 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.00004/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1489797633 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          15:52789801 (GRCh38)
                                          15:53081998 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:52789800:C:A
                                          Gene:
                                          ONECUT1 (Varview), LOC105370824 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:

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