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Items: 1 to 20 of 1735

1.

rs1491468305 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    16:9446663 (GRCh38)
    16:9540520 (GRCh37)
    Canonical SPDI:
    NC_000016.10:9446661:TAT:T
    Gene:
    LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.0024/9 (TWINSUK)
    -=0.0031/12 (ALSPAC)
    HGVS:
    2.

    rs1490683331 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:9445685 (GRCh38)
      16:9539542 (GRCh37)
      Canonical SPDI:
      NC_000016.10:9445684:A:G
      Gene:
      LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
      Functional Consequence:
      500B_downstream_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000054/1 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      G=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1490201325 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        16:9444016 (GRCh38)
        16:9537873 (GRCh37)
        Canonical SPDI:
        NC_000016.10:9444015:G:C
        Gene:
        LOC101927026 (Varview), LINC01177 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490177988 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:9443117 (GRCh38)
          16:9536974 (GRCh37)
          Canonical SPDI:
          NC_000016.10:9443116:C:T
          Gene:
          LOC101927026 (Varview), LINC01177 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489938777 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            16:9446651 (GRCh38)
            16:9540508 (GRCh37)
            Canonical SPDI:
            NC_000016.10:9446650:A:
            Gene:
            LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.00029/7 (GnomAD)
            HGVS:
            6.

            rs1489866538 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:9444774 (GRCh38)
              16:9538631 (GRCh37)
              Canonical SPDI:
              NC_000016.10:9444773:C:T
              Gene:
              LOC101927026 (Varview), LINC01177 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489775865 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:9443875 (GRCh38)
                16:9537732 (GRCh37)
                Canonical SPDI:
                NC_000016.10:9443874:A:G
                Gene:
                LOC101927026 (Varview), LINC01177 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                A=0.5/21 (SGDP_PRJ)
                HGVS:
                8.

                rs1489288770 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  16:9443370 (GRCh38)
                  16:9537227 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:9443369:C:G
                  Gene:
                  LOC101927026 (Varview), LINC01177 (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=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1489032239 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:9446038 (GRCh38)
                    16:9539895 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:9446037:G:A
                    Gene:
                    LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,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:
                    10.

                    rs1488709063 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:9446418 (GRCh38)
                      16:9540275 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:9446417:G:A
                      Gene:
                      LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.00004/1 (TOMMO)
                      A=0.00055/1 (Korea1K)
                      HGVS:
                      11.

                      rs1487074735 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CTAT [Show Flanks]
                        Chromosome:
                        16:9446673 (GRCh38)
                        16:9540531 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:9446673:TAT:TATCTAT
                        Gene:
                        LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TATCTAT=0./0 (ALFA)
                        TATC=0.00005/7 (GnomAD)
                        HGVS:
                        12.

                        rs1486752882 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CTTA [Show Flanks]
                          Chromosome:
                          16:9446676 (GRCh38)
                          16:9540534 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:9446676:TTA:TTACTTA
                          Gene:
                          LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTACTTA=0.00059/7 (ALFA)
                          TTAC=0.001037/144 (GnomAD)
                          HGVS:
                          13.

                          rs1485411405 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            16:9445962 (GRCh38)
                            16:9539819 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:9445961:A:C
                            Gene:
                            LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000224/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1484123496 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              16:9444806 (GRCh38)
                              16:9538663 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:9444805:A:G
                              Gene:
                              LOC101927026 (Varview), LINC01177 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1483918163 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                16:9442487 (GRCh38)
                                16:9536344 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:9442486:A:G
                                Gene:
                                LOC101927026 (Varview), LINC01177 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1483598890 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:9441799 (GRCh38)
                                  16:9535656 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:9441798:T:C
                                  Gene:
                                  LOC101927026 (Varview), LINC01177 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000043/6 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483041261 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:9441981 (GRCh38)
                                    16:9535838 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:9441980:G:A
                                    Gene:
                                    LOC101927026 (Varview), LINC01177 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000021/3 (GnomAD)
                                    A=0.000034/9 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482788744 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:9446472 (GRCh38)
                                      16:9540329 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:9446471:A:G
                                      Gene:
                                      LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000054/1 (ALFA)
                                      G=0.000015/4 (TOPMED)
                                      G=0.000036/5 (GnomAD)
                                      G=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1482668717 has merged into rs61641680 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ATTTATTTATTTATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTT,ATTTATTTATTTATTT,ATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT [Show Flanks]
                                        Chromosome:
                                        16:9446671 (GRCh38)
                                        16:9540528 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:9446647:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
                                        Gene:
                                        LOC101927026 (Varview), LINC01195 (Varview), LINC01177 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTATTTATTTATTTATTTATTTATTTATTT=0./0 (ALFA)
                                        -=0.1684/649 (ALSPAC)
                                        HGVS:
                                        20.

                                        rs1482129993 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:9444118 (GRCh38)
                                          16:9537975 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:9444117:C:T
                                          Gene:
                                          LOC101927026 (Varview), LINC01177 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          C=0.5/1 (SGDP_PRJ)
                                          HGVS:

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