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Items: 1 to 20 of 2342

1.

rs1491496493 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->C
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491495830 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      14:73828272 (GRCh38)
      14:74294975 (GRCh37)
      Canonical SPDI:
      NC_000014.9:73828271:GC:
      Gene:
      LINC02274 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000044/6 (GnomAD)
      HGVS:
      3.

      rs1491471103 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        14:73828235 (GRCh38)
        14:74294938 (GRCh37)
        Canonical SPDI:
        NC_000014.9:73828233:ACA:A
        Gene:
        LINC02274 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        -=0.001405/9 (1000Genomes)
        -=0.005969/813 (GnomAD)
        HGVS:
        4.

        rs1491457217 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          14:73824075 (GRCh38)
          14:74290778 (GRCh37)
          Canonical SPDI:
          NC_000014.9:73824074:CT:
          Gene:
          LINC02274 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491408947 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TA [Show Flanks]
            Chromosome:
            14:73828262 (GRCh38)
            14:74294966 (GRCh37)
            Canonical SPDI:
            NC_000014.9:73828262::TA
            Gene:
            LINC02274 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TA=0.00008/1 (ALFA)
            TA=0.0001/6 (GnomAD)
            HGVS:
            6.

            rs1491370787 has merged into rs56135487 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              14:73825021 (GRCh38)
              14:74291724 (GRCh37)
              Canonical SPDI:
              NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73825009:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              LINC02274 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAA=0./0 (ALFA)
              -=0.25/10 (GENOME_DK)
              HGVS:
              NC_000014.9:g.73825021_73825035del, NC_000014.9:g.73825022_73825035del, NC_000014.9:g.73825023_73825035del, NC_000014.9:g.73825024_73825035del, NC_000014.9:g.73825025_73825035del, NC_000014.9:g.73825026_73825035del, NC_000014.9:g.73825027_73825035del, NC_000014.9:g.73825028_73825035del, NC_000014.9:g.73825029_73825035del, NC_000014.9:g.73825030_73825035del, NC_000014.9:g.73825031_73825035del, NC_000014.9:g.73825032_73825035del, NC_000014.9:g.73825033_73825035del, NC_000014.9:g.73825034_73825035del, NC_000014.9:g.73825035del, NC_000014.9:g.73825035dup, NC_000014.9:g.73825034_73825035dup, NC_000014.9:g.73825033_73825035dup, NC_000014.9:g.73825032_73825035dup, NC_000014.9:g.73825031_73825035dup, NC_000014.9:g.73825030_73825035dup, NC_000014.9:g.73825029_73825035dup, NC_000014.9:g.73825024_73825035dup, NC_000014.9:g.73825035_73825036insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.74291724_74291738del, NC_000014.8:g.74291725_74291738del, NC_000014.8:g.74291726_74291738del, NC_000014.8:g.74291727_74291738del, NC_000014.8:g.74291728_74291738del, NC_000014.8:g.74291729_74291738del, NC_000014.8:g.74291730_74291738del, NC_000014.8:g.74291731_74291738del, NC_000014.8:g.74291732_74291738del, NC_000014.8:g.74291733_74291738del, NC_000014.8:g.74291734_74291738del, NC_000014.8:g.74291735_74291738del, NC_000014.8:g.74291736_74291738del, NC_000014.8:g.74291737_74291738del, NC_000014.8:g.74291738del, NC_000014.8:g.74291738dup, NC_000014.8:g.74291737_74291738dup, NC_000014.8:g.74291736_74291738dup, NC_000014.8:g.74291735_74291738dup, NC_000014.8:g.74291734_74291738dup, NC_000014.8:g.74291733_74291738dup, NC_000014.8:g.74291732_74291738dup, NC_000014.8:g.74291727_74291738dup, NC_000014.8:g.74291738_74291739insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              7.

              rs1491328338 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                14:73822249 (GRCh38)
                14:74288953 (GRCh37)
                Canonical SPDI:
                NC_000014.9:73822249::C
                Gene:
                LINC02274 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.00101/12 (ALFA)
                C=0.00614/137 (GnomAD)
                HGVS:
                8.

                rs1491294343 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->ATACATGCATATATATGCATATACATATACATATACAT [Show Flanks]
                  Chromosome:
                  14:73828234 (GRCh38)
                  14:74294938 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:73828234:CATATACATATACATATACATATACATGCATATATATGCATATACATATACATATACAT:CATATACATATACATATACATATACATGCATATATATGCATATACATATACATATACATATACATGCATATATATGCATATACATATACATATACAT
                  Gene:
                  LINC02274 (Varview)
                  Functional Consequence:
                  intron_variant
                  HGVS:
                  9.

                  rs1491290826 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TATACATATACATATA,TATATACATATACATATA,TATATACATATACATGCATATATATGCATATACATATATATATACATATACATATA,TATATATACATATACATATA [Show Flanks]
                    Chromosome:
                    14:73828272 (GRCh38)
                    14:74294976 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:73828272:CATATACATATA:CATATACATATATATACATATACATATA,NC_000014.9:73828272:CATATACATATA:CATATACATATATATATACATATACATATA,NC_000014.9:73828272:CATATACATATA:CATATACATATATATATACATATACATGCATATATATGCATATACATATATATATACATATACATATA,NC_000014.9:73828272:CATATACATATA:CATATACATATATATATATACATATACATATA
                    Gene:
                    LINC02274 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CATATACATATATATATACATATACATATA=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491281079 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>-,TT,TTT [Show Flanks]
                      Chromosome:
                      14:73824076 (GRCh38)
                      14:74290779 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:73824075:TT:T,NC_000014.9:73824075:TT:TTT,NC_000014.9:73824075:TT:TTTT
                      Gene:
                      LINC02274 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTT=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      TT=0.000009/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491273108 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        14:73825010 (GRCh38)
                        14:74291714 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:73825010::C
                        Gene:
                        LINC02274 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491270612 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GC>- [Show Flanks]
                          Chromosome:
                          14:73828262 (GRCh38)
                          14:74294965 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:73828261:GC:
                          Gene:
                          LINC02274 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.06592/782 (ALFA)
                          -=0.00056/43 (GnomAD)
                          -=0.00067/19 (TOMMO)
                          HGVS:
                          13.

                          rs1491249968 has merged into rs34270929 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
                            Chromosome:
                            14:73822258 (GRCh38)
                            14:74288961 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:73822248:TTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:73822248:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:73822248:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:73822248:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73822248:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
                            Gene:
                            LINC02274 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTT=0./0 (ALFA)
                            T=0.35/14 (GENOME_DK)
                            T=0.4101/2054 (1000Genomes)
                            HGVS:
                            14.

                            rs1491244402 has merged into rs11439716 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              14:73824084 (GRCh38)
                              14:74290787 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73824078:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              LINC02274 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              T=0.432308/2165 (1000Genomes)
                              HGVS:
                              NC_000014.9:g.73824084_73824096del, NC_000014.9:g.73824090_73824096del, NC_000014.9:g.73824091_73824096del, NC_000014.9:g.73824092_73824096del, NC_000014.9:g.73824094_73824096del, NC_000014.9:g.73824095_73824096del, NC_000014.9:g.73824096del, NC_000014.9:g.73824096dup, NC_000014.9:g.73824095_73824096dup, NC_000014.9:g.73824094_73824096dup, NC_000014.9:g.73824093_73824096dup, NC_000014.9:g.73824092_73824096dup, NC_000014.9:g.73824091_73824096dup, NC_000014.8:g.74290787_74290799del, NC_000014.8:g.74290793_74290799del, NC_000014.8:g.74290794_74290799del, NC_000014.8:g.74290795_74290799del, NC_000014.8:g.74290797_74290799del, NC_000014.8:g.74290798_74290799del, NC_000014.8:g.74290799del, NC_000014.8:g.74290799dup, NC_000014.8:g.74290798_74290799dup, NC_000014.8:g.74290797_74290799dup, NC_000014.8:g.74290796_74290799dup, NC_000014.8:g.74290795_74290799dup, NC_000014.8:g.74290794_74290799dup
                              15.

                              rs1491060711 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CG>- [Show Flanks]
                                Chromosome:
                                14:73827940 (GRCh38)
                                14:74294643 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:73827939:CG:
                                Gene:
                                LINC02274 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.000337/4 (ALFA)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490559479 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:73829633 (GRCh38)
                                  14:74296336 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:73829632:T:C
                                  Gene:
                                  LINC02274 (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:
                                  17.

                                  rs1490469003 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    14:73822788 (GRCh38)
                                    14:74289491 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:73822787:A:G
                                    Gene:
                                    LINC02274 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490429720 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      14:73831192 (GRCh38)
                                      14:74297895 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:73831191:G:A,NC_000014.9:73831191:G:C
                                      Gene:
                                      LINC02274 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.00004/1 (TOMMO)
                                      A=0.00333/2 (NorthernSweden)
                                      HGVS:
                                      19.

                                      rs1490305187 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        14:73823338 (GRCh38)
                                        14:74290041 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:73823337:G:C
                                        Gene:
                                        LINC02274 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489863426 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          14:73830925 (GRCh38)
                                          14:74297628 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:73830924:T:A
                                          Gene:
                                          LINC02274 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          HGVS:

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