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Items: 1 to 20 of 833

1.

rs1491197702 has merged into rs35860148 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT [Show Flanks]
    Chromosome:
    1:119599989 (GRCh38)
    1:120142612 (GRCh37)
    Canonical SPDI:
    NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:119599977:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LINC00622 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTT=0.0007/7 (ALFA)
    -=0.0491/182 (TWINSUK)
    -=0.0568/219 (ALSPAC)
    HGVS:
    2.

    rs1490902319 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      1:119600945 (GRCh38)
      1:120143568 (GRCh37)
      Canonical SPDI:
      NC_000001.11:119600944:A:C
      Gene:
      LINC00622 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000023/6 (TOPMED)
      HGVS:
      3.

      rs1490876181 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:119600084 (GRCh38)
        1:120142707 (GRCh37)
        Canonical SPDI:
        NC_000001.11:119600083:C:T
        Gene:
        LINC00622 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000034/9 (TOPMED)
        HGVS:
        4.

        rs1490056695 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          1:119599359 (GRCh38)
          1:120141982 (GRCh37)
          Canonical SPDI:
          NC_000001.11:119599358:A:G,NC_000001.11:119599358:A:T
          Gene:
          LINC00622 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000025/3 (GnomAD)
          T=0.000156/1 (1000Genomes)
          T=0.000212/6 (TOMMO)
          HGVS:
          5.

          rs1489774268 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:119598092 (GRCh38)
            1:120140715 (GRCh37)
            Canonical SPDI:
            NC_000001.11:119598091:T:C
            Gene:
            LINC00622 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488682029 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:119598434 (GRCh38)
              1:120141057 (GRCh37)
              Canonical SPDI:
              NC_000001.11:119598433:T:C
              Gene:
              LINC00622 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1487202815 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:119599374 (GRCh38)
                1:120141997 (GRCh37)
                Canonical SPDI:
                NC_000001.11:119599373:C:G
                Gene:
                LINC00622 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1486709045 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  1:119598164 (GRCh38)
                  1:120140787 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:119598163:T:C,NC_000001.11:119598163:T:G
                  Gene:
                  LINC00622 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  T=0.5/1 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs1486407661 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    1:119597528 (GRCh38)
                    1:120140151 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:119597527:GGG:GG
                    Gene:
                    LINC00622 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GG=0./0 (ALFA)
                    -=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1484349772 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:119598176 (GRCh38)
                      1:120140799 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:119598175:T:C
                      Gene:
                      LINC00622 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      HGVS:
                      11.

                      rs1483996158 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->CTTAGCCCT [Show Flanks]
                        Chromosome:
                        1:119597536 (GRCh38)
                        1:120140160 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:119597536::CTTAGCCCT
                        Gene:
                        LINC00622 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CTTAGCCCT=0./0 (ALFA)
                        CTTAGCCCT=0.000004/1 (TOPMED)
                        CTTAGCCCT=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1483184517 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:119599612 (GRCh38)
                          1:120142235 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:119599611:A:G
                          Gene:
                          LINC00622 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1482206110 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,G [Show Flanks]
                            Chromosome:
                            1:119599983 (GRCh38)
                            1:120142606 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:119599982:T:A,NC_000001.11:119599982:T:G
                            Gene:
                            LINC00622 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1482175844 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:119598981 (GRCh38)
                              1:120141604 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:119598980:C:A
                              Gene:
                              LINC00622 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1481516302 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:119599058 (GRCh38)
                                1:120141681 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:119599057:G:A
                                Gene:
                                LINC00622 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1480558828 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  1:119600978 (GRCh38)
                                  1:120143601 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:119600977:G:C,NC_000001.11:119600977:G:T
                                  Gene:
                                  LINC00622 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1480084582 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:119599491 (GRCh38)
                                    1:120142114 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:119599490:C:T
                                    Gene:
                                    LINC00622 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000008/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1479983977 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:119597974 (GRCh38)
                                      1:120140597 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:119597973:A:G
                                      Gene:
                                      LINC00622 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479533638 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        1:119601049 (GRCh38)
                                        1:120143672 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:119601048:T:A
                                        Gene:
                                        LINC00622 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_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:
                                        20.

                                        rs1479320969 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:119598962 (GRCh38)
                                          1:120141585 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:119598961:C:G
                                          Gene:
                                          LINC00622 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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