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Items: 1 to 20 of 1000

1.

rs1491549125 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    5:170192489 (GRCh38)
    5:169619494 (GRCh37)
    Canonical SPDI:
    NC_000005.10:170192489:A:AA
    Gene:
    LINC01187 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    AA=0.00006/1 (ALFA)
    A=0.00022/1 (Estonian)
    HGVS:
    2.

    rs1491480102 has merged into rs66829839 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CC>-,C,CCC,CCCC [Show Flanks]
      Chromosome:
      5:170195802 (GRCh38)
      5:169622806 (GRCh37)
      Canonical SPDI:
      NC_000005.10:170195794:CCCCCCCCC:CCCCCCC,NC_000005.10:170195794:CCCCCCCCC:CCCCCCCC,NC_000005.10:170195794:CCCCCCCCC:CCCCCCCCCC,NC_000005.10:170195794:CCCCCCCCC:CCCCCCCCCCC
      Gene:
      LINC01187 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCCCCCCCCC=0./0 (ALFA)
      C=0.3/12 (GENOME_DK)
      -=0.432752/1937 (Estonian)
      -=0.465/279 (NorthernSweden)
      -=0.475952/475 (GoNL)
      -=0.491697/1895 (ALSPAC)
      C=0.49179/130172 (TOPMED)
      C=0.498921/1850 (TWINSUK)
      HGVS:
      3.

      rs1490308660 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        5:170200880 (GRCh38)
        5:169627884 (GRCh37)
        Canonical SPDI:
        NC_000005.10:170200879:T:C
        Gene:
        LINC01187 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1490201484 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:170191621 (GRCh38)
          5:169618625 (GRCh37)
          Canonical SPDI:
          NC_000005.10:170191620:C:T
          Gene:
          LINC01187 (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000198/3 (ALFA)
          T=0.000011/3 (TOPMED)
          T=0.000022/3 (GnomAD)
          T=0.00067/3 (Estonian)
          T=0.008333/5 (NorthernSweden)
          HGVS:
          5.

          rs1489940104 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            5:170193457 (GRCh38)
            5:169620461 (GRCh37)
            Canonical SPDI:
            NC_000005.10:170193456:C:A
            Gene:
            LINC01187 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1489385918 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              5:170193835 (GRCh38)
              5:169620839 (GRCh37)
              Canonical SPDI:
              NC_000005.10:170193834:A:T
              Gene:
              LINC01187 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1488930473 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:170197168 (GRCh38)
                5:169624172 (GRCh37)
                Canonical SPDI:
                NC_000005.10:170197167:A:G
                Gene:
                LINC01187 (Varview)
                Functional Consequence:
                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:
                8.

                rs1488281404 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  5:170196140 (GRCh38)
                  5:169623144 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:170196139:T:C
                  Gene:
                  LINC01187 (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:
                  9.

                  rs1488163380 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    5:170198916 (GRCh38)
                    5:169625920 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:170198915:G:A
                    Gene:
                    LINC01187 (Varview)
                    Functional Consequence:
                    non_coding_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:
                    10.

                    rs1486964153 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      5:170198095 (GRCh38)
                      5:169625100 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:170198095:C:CC
                      Gene:
                      LINC01187 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CC=0./0 (ALFA)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1486820888 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:170199039 (GRCh38)
                        5:169626043 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:170199038:G:A
                        Gene:
                        LINC01187 (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1486308949 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          5:170196511 (GRCh38)
                          5:169623515 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:170196510:A:G
                          Gene:
                          LINC01187 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1485979168 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            5:170198565 (GRCh38)
                            5:169625569 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:170198564:A:G
                            Gene:
                            LINC01187 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1485725844 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:170194419 (GRCh38)
                              5:169621423 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:170194418:T:C
                              Gene:
                              LINC01187 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1485665293 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                5:170198766 (GRCh38)
                                5:169625770 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:170198765:C:T
                                Gene:
                                LINC01187 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000019/5 (TOPMED)
                                T=0.000057/8 (GnomAD)
                                HGVS:
                                16.

                                rs1485562825 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:170200839 (GRCh38)
                                  5:169627843 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:170200838:C:T
                                  Gene:
                                  LINC01187 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485188629 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    5:170198579 (GRCh38)
                                    5:169625583 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:170198578:A:T
                                    Gene:
                                    LINC01187 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485109788 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:170193851 (GRCh38)
                                      5:169620855 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:170193850:G:A
                                      Gene:
                                      LINC01187 (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:
                                      19.

                                      rs1484627312 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:170198364 (GRCh38)
                                        5:169625368 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:170198363:T:C
                                        Gene:
                                        LINC01187 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000671/3 (ALFA)
                                        C=0.000021/3 (GnomAD)
                                        C=0.00067/3 (Estonian)
                                        HGVS:
                                        20.

                                        rs1484584551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          5:170199867 (GRCh38)
                                          5:169626871 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:170199866:G:T
                                          Gene:
                                          LINC01187 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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