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Items: 1 to 20 of 2797

1.

rs1489133172 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    18:5244214 (GRCh38)
    18:5244213 (GRCh37)
    Canonical SPDI:
    NC_000018.10:5244213:T:C,NC_000018.10:5244213:T:G
    Gene:
    LINC00667 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1489041807 has merged into rs10662496 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      18:5243311 (GRCh38)
      18:5243310 (GRCh37)
      Canonical SPDI:
      NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5243301:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LINC00667 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAA=0./0 (ALFA)
      -=0.3644/1825 (1000Genomes)
      HGVS:
      NC_000018.10:g.5243311_5243317del, NC_000018.10:g.5243312_5243317del, NC_000018.10:g.5243313_5243317del, NC_000018.10:g.5243314_5243317del, NC_000018.10:g.5243315_5243317del, NC_000018.10:g.5243316_5243317del, NC_000018.10:g.5243317del, NC_000018.10:g.5243317dup, NC_000018.10:g.5243316_5243317dup, NC_000018.10:g.5243315_5243317dup, NC_000018.10:g.5243314_5243317dup, NC_000018.10:g.5243313_5243317dup, NC_000018.10:g.5243312_5243317dup, NC_000018.10:g.5243311_5243317dup, NC_000018.10:g.5243310_5243317dup, NC_000018.10:g.5243309_5243317dup, NC_000018.10:g.5243308_5243317dup, NC_000018.10:g.5243307_5243317dup, NC_000018.10:g.5243306_5243317dup, NC_000018.10:g.5243304_5243317dup, NC_000018.10:g.5243303_5243317dup, NC_000018.9:g.5243310_5243316del, NC_000018.9:g.5243311_5243316del, NC_000018.9:g.5243312_5243316del, NC_000018.9:g.5243313_5243316del, NC_000018.9:g.5243314_5243316del, NC_000018.9:g.5243315_5243316del, NC_000018.9:g.5243316del, NC_000018.9:g.5243316dup, NC_000018.9:g.5243315_5243316dup, NC_000018.9:g.5243314_5243316dup, NC_000018.9:g.5243313_5243316dup, NC_000018.9:g.5243312_5243316dup, NC_000018.9:g.5243311_5243316dup, NC_000018.9:g.5243310_5243316dup, NC_000018.9:g.5243309_5243316dup, NC_000018.9:g.5243308_5243316dup, NC_000018.9:g.5243307_5243316dup, NC_000018.9:g.5243306_5243316dup, NC_000018.9:g.5243305_5243316dup, NC_000018.9:g.5243303_5243316dup, NC_000018.9:g.5243302_5243316dup
      3.

      rs1489020996 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        18:5243404 (GRCh38)
        18:5243403 (GRCh37)
        Canonical SPDI:
        NC_000018.10:5243403:G:C
        Gene:
        LINC00667 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488725895 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          18:5240483 (GRCh38)
          18:5240482 (GRCh37)
          Canonical SPDI:
          NC_000018.10:5240482:C:A,NC_000018.10:5240482:C:T
          Gene:
          LINC00667 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1488521954 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            18:5236258 (GRCh38)
            18:5236257 (GRCh37)
            Canonical SPDI:
            NC_000018.10:5236257:C:T
            Gene:
            LINC00526 (Varview), LINC00667 (Varview)
            Functional Consequence:
            2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000021/3 (GnomAD)
            T=0.000072/19 (TOPMED)
            HGVS:
            6.

            rs1488256411 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              18:5238077 (GRCh38)
              18:5238076 (GRCh37)
              Canonical SPDI:
              NC_000018.10:5238076:C:T
              Gene:
              LINC00526 (Varview), LINC00667 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000049/13 (TOPMED)
              T=0.00005/7 (GnomAD)
              HGVS:
              7.

              rs1487795608 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                18:5238376 (GRCh38)
                18:5238375 (GRCh37)
                Canonical SPDI:
                NC_000018.10:5238375:C:A,NC_000018.10:5238375:C:G,NC_000018.10:5238375:C:T
                Gene:
                LINC00526 (Varview), LINC00667 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000016/2 (GnomAD_exomes)
                T=0.000026/7 (TOPMED)
                G=0.000239/4 (TOMMO)
                HGVS:
                8.

                rs1487574940 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  18:5238433 (GRCh38)
                  18:5238432 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:5238432:G:A,NC_000018.10:5238432:G:C,NC_000018.10:5238432:G:T
                  Gene:
                  LINC00526 (Varview), LINC00667 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1487527689 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    18:5244951 (GRCh38)
                    18:5244950 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:5244950:A:G
                    Gene:
                    LINC00667 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000008/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487087618 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      18:5244033 (GRCh38)
                      18:5244033 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:5244033:TTTTTT:TTTTTTT
                      Gene:
                      LINC00667 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TTTTTTT=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1487061911 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        18:5244099 (GRCh38)
                        18:5244098 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:5244098:G:A
                        Gene:
                        LINC00667 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486770803 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          18:5241411 (GRCh38)
                          18:5241410 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:5241410:T:A,NC_000018.10:5241410:T:C
                          Gene:
                          LINC00667 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1486758829 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            18:5244421 (GRCh38)
                            18:5244420 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:5244420:C:G
                            Gene:
                            LINC00667 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1486615143 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              18:5238396 (GRCh38)
                              18:5238395 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:5238395:G:A
                              Gene:
                              LINC00526 (Varview), LINC00667 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_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.

                              rs1486290188 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                18:5238642 (GRCh38)
                                18:5238641 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:5238641:C:A
                                Gene:
                                LINC00526 (Varview), LINC00667 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1486173246 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TCGCCGCCACCGGGAT [Show Flanks]
                                  Chromosome:
                                  18:5238032 (GRCh38)
                                  18:5238032 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:5238032:TCGCCGCCACCGGGAT:TCGCCGCCACCGGGATTCGCCGCCACCGGGAT
                                  Gene:
                                  LINC00526 (Varview), LINC00667 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TCGCCGCCACCGGGATTCGCCGCCACCGGGAT=0./0 (ALFA)
                                  TCGCCGCCACCGGGAT=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486070314 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    18:5238584 (GRCh38)
                                    18:5238583 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:5238583:G:A
                                    Gene:
                                    LINC00526 (Varview), LINC00667 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485566849 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      18:5245561 (GRCh38)
                                      18:5245560 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:5245560:G:T
                                      Gene:
                                      LINC00667 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485401447 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        18:5242600 (GRCh38)
                                        18:5242599 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:5242599:G:A
                                        Gene:
                                        LINC00667 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1485371647 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          18:5243751 (GRCh38)
                                          18:5243750 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:5243750:G:A
                                          Gene:
                                          LINC00667 (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:

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