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Items: 1 to 20 of 3273

1.

rs1491326667 has merged into rs58619185 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:72347006 (GRCh38)
    17:70343147 (GRCh37)
    Canonical SPDI:
    NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72346997:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC02003 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    -=0.475/19 (GENOME_DK)
    HGVS:
    NC_000017.11:g.72347006_72347016del, NC_000017.11:g.72347008_72347016del, NC_000017.11:g.72347009_72347016del, NC_000017.11:g.72347010_72347016del, NC_000017.11:g.72347011_72347016del, NC_000017.11:g.72347012_72347016del, NC_000017.11:g.72347013_72347016del, NC_000017.11:g.72347014_72347016del, NC_000017.11:g.72347015_72347016del, NC_000017.11:g.72347016del, NC_000017.11:g.72347016dup, NC_000017.11:g.72347015_72347016dup, NC_000017.11:g.72347014_72347016dup, NC_000017.11:g.72347013_72347016dup, NC_000017.11:g.72347012_72347016dup, NC_000017.11:g.72347011_72347016dup, NC_000017.11:g.72347010_72347016dup, NC_000017.11:g.72347009_72347016dup, NC_000017.11:g.72347008_72347016dup, NC_000017.11:g.72347007_72347016dup, NC_000017.11:g.72347003_72347016dup, NC_000017.11:g.72347001_72347016dup, NC_000017.11:g.72347000_72347016dup, NC_000017.11:g.72346999_72347016dup, NC_000017.10:g.70343147_70343157del, NC_000017.10:g.70343149_70343157del, NC_000017.10:g.70343150_70343157del, NC_000017.10:g.70343151_70343157del, NC_000017.10:g.70343152_70343157del, NC_000017.10:g.70343153_70343157del, NC_000017.10:g.70343154_70343157del, NC_000017.10:g.70343155_70343157del, NC_000017.10:g.70343156_70343157del, NC_000017.10:g.70343157del, NC_000017.10:g.70343157dup, NC_000017.10:g.70343156_70343157dup, NC_000017.10:g.70343155_70343157dup, NC_000017.10:g.70343154_70343157dup, NC_000017.10:g.70343153_70343157dup, NC_000017.10:g.70343152_70343157dup, NC_000017.10:g.70343151_70343157dup, NC_000017.10:g.70343150_70343157dup, NC_000017.10:g.70343149_70343157dup, NC_000017.10:g.70343148_70343157dup, NC_000017.10:g.70343144_70343157dup, NC_000017.10:g.70343142_70343157dup, NC_000017.10:g.70343141_70343157dup, NC_000017.10:g.70343140_70343157dup
    2.

    rs1491215833 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:72346997 (GRCh38)
      17:70343138 (GRCh37)
      Canonical SPDI:
      NC_000017.11:72346996:CA:
      Gene:
      LINC02003 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00025/3 (ALFA)
      HGVS:
      3.

      rs1490953889 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:72341113 (GRCh38)
        17:70337254 (GRCh37)
        Canonical SPDI:
        NC_000017.11:72341112:G:A
        Gene:
        LINC02003 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490891486 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:72351934 (GRCh38)
          17:70348075 (GRCh37)
          Canonical SPDI:
          NC_000017.11:72351933:C:T
          Gene:
          LINC02003 (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:
          5.

          rs1490674067 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            17:72348838 (GRCh38)
            17:70344979 (GRCh37)
            Canonical SPDI:
            NC_000017.11:72348837:C:G
            Gene:
            LINC02003 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490647420 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AC [Show Flanks]
              Chromosome:
              17:72349689 (GRCh38)
              17:70345831 (GRCh37)
              Canonical SPDI:
              NC_000017.11:72349689:CAC:CACAC
              Gene:
              LINC02003 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              CACAC=0./0 (ALFA)
              HGVS:
              7.

              rs1489833511 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                17:72346964 (GRCh38)
                17:70343105 (GRCh37)
                Canonical SPDI:
                NC_000017.11:72346963:C:
                Gene:
                LINC02003 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.000071/1 (ALFA)
                -=0.000351/48 (GnomAD)
                -=0.00037/98 (TOPMED)
                -=0.000625/4 (1000Genomes)
                HGVS:
                8.

                rs1489733568 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:72347973 (GRCh38)
                  17:70344114 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:72347972:T:C
                  Gene:
                  LINC02003 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489678170 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    17:72349024 (GRCh38)
                    17:70345165 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:72349023:C:A,NC_000017.11:72349023:C:G
                    Gene:
                    LINC02003 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    A=0.000035/1 (TOMMO)
                    A=0.00005/7 (GnomAD)
                    A=0.000156/1 (1000Genomes)
                    HGVS:
                    10.

                    rs1489648254 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:72355069 (GRCh38)
                      17:70351210 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:72355068:G:A
                      Gene:
                      LINC02003 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489133375 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:72343412 (GRCh38)
                        17:70339553 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:72343411:G:A
                        Gene:
                        LINC02003 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1488714353 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:72354166 (GRCh38)
                          17:70350307 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:72354165:G:A
                          Gene:
                          LINC02003 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000324/6 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.00005/7 (GnomAD)
                          A=0.001339/6 (Estonian)
                          HGVS:
                          13.

                          rs1488698173 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,G [Show Flanks]
                            Chromosome:
                            17:72348280 (GRCh38)
                            17:70344421 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:72348279:T:A,NC_000017.11:72348279:T:G
                            Gene:
                            LINC02003 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000084/1 (ALFA)
                            G=0./0 (GnomAD)
                            A=0.000156/1 (1000Genomes)
                            A=0.050308/147 (KOREAN)
                            HGVS:
                            14.

                            rs1488476368 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              17:72352064 (GRCh38)
                              17:70348205 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:72352063:C:A
                              Gene:
                              LINC02003 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488272417 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                17:72341152 (GRCh38)
                                17:70337293 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:72341151:A:C
                                Gene:
                                LINC02003 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1488058771 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:72352213 (GRCh38)
                                  17:70348354 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:72352212:G:A
                                  Gene:
                                  LINC02003 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487922738 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    17:72342665 (GRCh38)
                                    17:70338806 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:72342664:G:C
                                    Gene:
                                    LINC02003 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487445030 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:72342990 (GRCh38)
                                      17:70339131 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:72342989:G:A
                                      Gene:
                                      LINC02003 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487386409 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:72343940 (GRCh38)
                                        17:70340081 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:72343939:G:A
                                        Gene:
                                        LINC02003 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1487269535 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:72351227 (GRCh38)
                                          17:70347368 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:72351226:G:A
                                          Gene:
                                          LINC02003 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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