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Items: 1 to 20 of 4683

1.

rs1491349452 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    16:51020599 (GRCh38)
    16:51054510 (GRCh37)
    Canonical SPDI:
    NC_000016.10:51020598:TG:
    Gene:
    LINC02127 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    -=0.00002/1 (GnomAD)
    HGVS:
    2.

    rs1491332949 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      16:51033065 (GRCh38)
      16:51066976 (GRCh37)
      Canonical SPDI:
      NC_000016.10:51033064:AT:
      Gene:
      LINC02127 (Varview), LOC107984903 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000253/3 (ALFA)
      -=0.000383/43 (GnomAD)
      HGVS:
      3.

      rs1491281058 has merged into rs34513209 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT,TTTT,TTTTTTTT [Show Flanks]
        Chromosome:
        16:51033078 (GRCh38)
        16:51066989 (GRCh37)
        Canonical SPDI:
        NC_000016.10:51033065:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:51033065:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:51033065:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:51033065:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:51033065:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
        Gene:
        LINC02127 (Varview), LOC107984903 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.21825/1093 (1000Genomes)
        -=0.22003/848 (ALSPAC)
        -=0.22333/134 (NorthernSweden)
        -=0.22789/845 (TWINSUK)
        -=0.375/15 (GENOME_DK)
        HGVS:
        4.

        rs1491225052 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GA [Show Flanks]
          Chromosome:
          16:51020599 (GRCh38)
          16:51054511 (GRCh37)
          Canonical SPDI:
          NC_000016.10:51020599:GA:GAGA
          Gene:
          LINC02127 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          GAGA=0./0 (ALFA)
          GA=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491207868 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            16:51020600 (GRCh38)
            16:51054511 (GRCh37)
            Canonical SPDI:
            NC_000016.10:51020599:GA:
            Gene:
            LINC02127 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.00006/2 (GnomAD)
            HGVS:
            6.

            rs1490865216 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              16:51016914 (GRCh38)
              16:51050825 (GRCh37)
              Canonical SPDI:
              NC_000016.10:51016913:A:G
              Gene:
              LINC02127 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490521898 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                16:51036222 (GRCh38)
                16:51070133 (GRCh37)
                Canonical SPDI:
                NC_000016.10:51036221:T:A
                Gene:
                LINC02127 (Varview), LOC107984903 (Varview)
                Functional Consequence:
                500B_downstream_variant,intron_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490429575 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:51018384 (GRCh38)
                  16:51052295 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:51018383:C:T
                  Gene:
                  LINC02127 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490376354 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    16:51032071 (GRCh38)
                    16:51065982 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:51032070:G:T
                    Gene:
                    LINC02127 (Varview), LOC107984903 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490276706 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:51024038 (GRCh38)
                      16:51057949 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:51024037:A:G
                      Gene:
                      LINC02127 (Varview), LOC107984903 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490051534 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        16:51031080 (GRCh38)
                        16:51064991 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:51031079:C:A
                        Gene:
                        LINC02127 (Varview), LOC107984903 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000029/4 (GnomAD)
                        A=0.000045/12 (TOPMED)
                        HGVS:
                        12.

                        rs1490038852 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:51016591 (GRCh38)
                          16:51050502 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:51016590:T:C
                          Gene:
                          LINC02127 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,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:
                          13.

                          rs1489910443 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            T>G
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1489887166 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GAGA>-,GAGAGA [Show Flanks]
                              Chromosome:
                              16:51031575 (GRCh38)
                              16:51065486 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:51031568:GAGAGAGAGA:GAGAGA,NC_000016.10:51031568:GAGAGAGAGA:GAGAGAGAGAGA
                              Gene:
                              LINC02127 (Varview), LOC107984903 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GAGAGAGAGAGA=0./0 (ALFA)
                              -=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1489731743 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                16:51030204 (GRCh38)
                                16:51064115 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:51030203:C:A
                                Gene:
                                LINC02127 (Varview), LOC107984903 (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:
                                16.

                                rs1489385193 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  16:51023304 (GRCh38)
                                  16:51057215 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:51023303:A:G
                                  Gene:
                                  LINC02127 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489315257 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:51029916 (GRCh38)
                                    16:51063827 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:51029915:T:C
                                    Gene:
                                    LINC02127 (Varview), LOC107984903 (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:
                                    18.

                                    rs1489027330 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      A>- [Show Flanks]
                                      Chromosome:
                                      16:51022088 (GRCh38)
                                      16:51055999 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:51022087:AA:A
                                      Gene:
                                      LINC02127 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AA=0.000224/1 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488975431 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        16:51031696 (GRCh38)
                                        16:51065607 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:51031695:T:A,NC_000016.10:51031695:T:C
                                        Gene:
                                        LINC02127 (Varview), LOC107984903 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        A=0.000035/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1488472858 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:51023542 (GRCh38)
                                          16:51057453 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:51023541:C:T
                                          Gene:
                                          LINC02127 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000019/5 (TOPMED)
                                          HGVS:

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