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Items: 1 to 20 of 2181

1.

rs1490738148 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    16:85286806 (GRCh38)
    16:85320412 (GRCh37)
    Canonical SPDI:
    NC_000016.10:85286805:C:G,NC_000016.10:85286805:C:T
    Gene:
    GSE1 (Varview), LINC00311 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490666506 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      16:85284417 (GRCh38)
      16:85318023 (GRCh37)
      Canonical SPDI:
      NC_000016.10:85284416:G:C
      Gene:
      GSE1 (Varview), LINC00311 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000019/5 (TOPMED)
      C=0.000036/5 (GnomAD)
      HGVS:
      3.

      rs1490104664 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        16:85283601 (GRCh38)
        16:85317207 (GRCh37)
        Canonical SPDI:
        NC_000016.10:85283600:A:C
        Gene:
        GSE1 (Varview), LINC00311 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,genic_upstream_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:
        4.

        rs1489845324 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C,T [Show Flanks]
          Chromosome:
          16:85283720 (GRCh38)
          16:85317326 (GRCh37)
          Canonical SPDI:
          NC_000016.10:85283719:G:C,NC_000016.10:85283719:G:T
          Gene:
          GSE1 (Varview), LINC00311 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489833054 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            16:85288065 (GRCh38)
            16:85321671 (GRCh37)
            Canonical SPDI:
            NC_000016.10:85288064:CC:C
            Gene:
            GSE1 (Varview), LINC00311 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            -=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1489712036 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C,T [Show Flanks]
              Chromosome:
              16:85285227 (GRCh38)
              16:85318833 (GRCh37)
              Canonical SPDI:
              NC_000016.10:85285226:G:C,NC_000016.10:85285226:G:T
              Gene:
              GSE1 (Varview), LINC00311 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489572866 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:85287854 (GRCh38)
                16:85321460 (GRCh37)
                Canonical SPDI:
                NC_000016.10:85287853:G:A
                Gene:
                GSE1 (Varview), LINC00311 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1489567830 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  16:85282998 (GRCh38)
                  16:85316604 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:85282997:C:G,NC_000016.10:85282997:C:T
                  Gene:
                  GSE1 (Varview), LINC00311 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.0002/3 (ALFA)
                  T=0.00067/3 (Estonian)
                  HGVS:
                  9.

                  rs1489518866 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:85281290 (GRCh38)
                    16:85314896 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:85281289:A:G
                    Gene:
                    GSE1 (Varview), LINC00311 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000447/2 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000446/2 (Estonian)
                    HGVS:
                    10.

                    rs1489387321 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:85283571 (GRCh38)
                      16:85317177 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:85283570:G:A
                      Gene:
                      GSE1 (Varview), LINC00311 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1489267152 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:85288235 (GRCh38)
                        16:85321841 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:85288234:G:A
                        Gene:
                        GSE1 (Varview), LINC00311 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000084/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489158065 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:85282510 (GRCh38)
                          16:85316116 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:85282509:C:T
                          Gene:
                          GSE1 (Varview), LINC00311 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489135656 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:85288048 (GRCh38)
                            16:85321654 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:85288047:T:C
                            Gene:
                            GSE1 (Varview), LINC00311 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487934726 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:85282170 (GRCh38)
                              16:85315776 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:85282169:G:A
                              Gene:
                              GSE1 (Varview), LINC00311 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487756082 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:85284666 (GRCh38)
                                16:85318272 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:85284665:G:A
                                Gene:
                                GSE1 (Varview), LINC00311 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                A=0.000312/2 (1000Genomes)
                                HGVS:
                                16.

                                rs1487498352 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  T>A
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1487317672 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:85286557 (GRCh38)
                                    16:85320163 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:85286556:C:T
                                    Gene:
                                    GSE1 (Varview), LINC00311 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486862490 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      16:85281428 (GRCh38)
                                      16:85315034 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:85281427:C:G,NC_000016.10:85281427:C:T
                                      Gene:
                                      GSE1 (Varview), LINC00311 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1485684770 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:85286174 (GRCh38)
                                        16:85319780 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:85286173:C:T
                                        Gene:
                                        GSE1 (Varview), LINC00311 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000283/5 (TOMMO)
                                        T=0.000546/1 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1485359125 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          16:85285802 (GRCh38)
                                          16:85319408 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:85285801:G:A,NC_000016.10:85285801:G:T
                                          Gene:
                                          GSE1 (Varview), LINC00311 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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