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Items: 1 to 20 of 1000

1.

rs1491566405 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GTAT,GTATAT,GTATATAT,TT [Show Flanks]
    Chromosome:
    1:148277138 (GRCh38)
    1:-1 (GRCh37)
    Canonical SPDI:
    NC_000001.11:148277138:T:TGTAT,NC_000001.11:148277138:T:TGTATAT,NC_000001.11:148277138:T:TGTATATAT,NC_000001.11:148277138:T:TTT
    Gene:
    LINC01731 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTATAT=0./0 (ALFA)
    TT=0.00006/16 (TOPMED)
    HGVS:
    2.

    rs1491433539 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CG>- [Show Flanks]
      Chromosome:
      1:148277137 (GRCh38)
      1:147749266 (GRCh37)
      Canonical SPDI:
      NC_000001.11:148277136:CG:
      Gene:
      LINC01731 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1491422979 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        1:148277138 (GRCh38)
        1:147749268 (GRCh37)
        Canonical SPDI:
        NC_000001.11:148277137:GT:
        Gene:
        LINC01731 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.00007/2 (TOMMO)
        -=0.00018/13 (GnomAD)
        HGVS:
        4.

        rs1491139868 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GT [Show Flanks]
          Chromosome:
          1:148277137 (GRCh38)
          1:147749268 (GRCh37)
          Canonical SPDI:
          NC_000001.11:148277137:GT:GTGT
          Gene:
          LINC01731 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGT=0./0 (ALFA)
          GT=0.02026/1458 (GnomAD)
          GT=0.03797/1073 (TOMMO)
          GT=0.05281/92 (Korea1K)
          HGVS:
          5.

          rs1491015484 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            1:148277098 (GRCh38)
            1:147749227 (GRCh37)
            Canonical SPDI:
            NC_000001.11:148277097:AT:
            Gene:
            LINC01731 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000008/1 (GnomAD)
            HGVS:
            6.

            rs1490991245 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              1:148277427 (GRCh38)
              1:147749546 (GRCh37)
              Canonical SPDI:
              NC_000001.11:148277426:T:C,NC_000001.11:148277426:T:G
              Gene:
              LINC02806 (Varview), LINC01731 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1490958316 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:148288751 (GRCh38)
                1:147760857 (GRCh37)
                Canonical SPDI:
                NC_000001.11:148288750:G:A
                Gene:
                LINC02806 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000014/2 (GnomAD)
                A=0.00003/8 (TOPMED)
                A=0.000342/1 (KOREAN)
                A=0.000672/11 (TOMMO)
                HGVS:
                8.

                rs1490942475 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:148288171 (GRCh38)
                  1:147760277 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:148288170:G:A
                  Gene:
                  LINC02806 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490816405 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:148294135 (GRCh38)
                    1:147766241 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:148294134:C:T
                    Gene:
                    LINC02806 (Varview), LOC105371225 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,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:
                    10.

                    rs1490752231 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:148282339 (GRCh38)
                      1:147754445 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:148282338:T:C
                      Gene:
                      LINC02806 (Varview), LINC01731 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490736867 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ACCA>- [Show Flanks]
                        Chromosome:
                        1:148281481 (GRCh38)
                        1:147753587 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:148281478:CAACCA:CA
                        Gene:
                        LINC02806 (Varview), LINC01731 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CA=0.00008/1 (ALFA)
                        HGVS:
                        12.

                        rs1490705288 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          1:148282294 (GRCh38)
                          1:147754400 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:148282293:C:G,NC_000001.11:148282293:C:T
                          Gene:
                          LINC02806 (Varview), LINC01731 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.00017/7 (GnomAD)
                          T=0.00047/3 (1000Genomes)
                          HGVS:
                          13.

                          rs1490653018 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TAT>- [Show Flanks]
                            Chromosome:
                            1:148294509 (GRCh38)
                            1:147766616 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:148294504:TTATTAT:TTAT
                            Gene:
                            LINC02806 (Varview), LOC105371225 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTAT=0./0 (ALFA)
                            -=0./0 (GnomAD)
                            -=0.000019/5 (TOPMED)
                            HGVS:
                            14.

                            rs1490573876 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:148281971 (GRCh38)
                              1:147754077 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:148281970:G:A
                              Gene:
                              LINC02806 (Varview), LINC01731 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000008/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490543534 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:148283183 (GRCh38)
                                1:147755290 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:148283182:A:G
                                Gene:
                                LINC02806 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490256785 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:148293021 (GRCh38)
                                  1:147765127 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:148293020:C:G
                                  Gene:
                                  LINC02806 (Varview), LOC105371225 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490221637 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    1:148293828 (GRCh38)
                                    1:147765934 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:148293827:T:
                                    Gene:
                                    LINC02806 (Varview), LOC105371225 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489828839 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:148287424 (GRCh38)
                                      1:147759530 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:148287423:G:C
                                      Gene:
                                      LINC02806 (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:
                                      19.

                                      rs1489800853 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:148297949 (GRCh38)
                                        1:147770056 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:148297948:C:T
                                        Gene:
                                        LINC02806 (Varview), LOC105371225 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489798278 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:148287952 (GRCh38)
                                          1:147760058 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:148287951:C:T
                                          Gene:
                                          LINC02806 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000057/8 (GnomAD)
                                          T=0.000121/32 (TOPMED)
                                          HGVS:

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