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Links from Gene

Items: 1 to 20 of 12210

1.

rs1491447016 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTCT>-,CTCTCT [Show Flanks]
    Chromosome:
    3:150287633 (GRCh38)
    3:150005420 (GRCh37)
    Canonical SPDI:
    NC_000003.12:150287619:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000003.12:150287619:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT
    Gene:
    LINC01214 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
    TC=0.00004/4 (GnomAD)
    HGVS:
    2.

    rs1491326092 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      3:150287591 (GRCh38)
      3:150005378 (GRCh37)
      Canonical SPDI:
      NC_000003.12:150287590:AT:
      Gene:
      LINC01214 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000009/1 (GnomAD)
      HGVS:
      3.

      rs1491216269 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        3:150269824 (GRCh38)
        3:149987611 (GRCh37)
        Canonical SPDI:
        NC_000003.12:150269823:CT:
        Gene:
        LINC01214 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1491173859 has merged into rs35732382 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
          Chromosome:
          3:150269836 (GRCh38)
          3:149987623 (GRCh37)
          Canonical SPDI:
          NC_000003.12:150269824:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:150269824:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:150269824:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:150269824:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:150269824:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:150269824:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
          Gene:
          LINC01214 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.00833/5 (NorthernSweden)
          HGVS:
          5.

          rs1491091818 has merged into rs56122374 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            3:150287619 (GRCh38)
            3:150005406 (GRCh37)
            Canonical SPDI:
            NC_000003.12:150287617:TTT:T
            Gene:
            LINC01214 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.10302/1222 (ALFA)
            -=0.08119/1361 (TOMMO)
            -=0.15229/279 (Korea1K)
            -=0.17162/14952 (GnomAD)
            -=0.17167/103 (NorthernSweden)
            -=0.175/7 (GENOME_DK)
            -=0.21386/793 (TWINSUK)
            -=0.23819/918 (ALSPAC)
            HGVS:
            6.

            rs1491075821 has merged into rs35742649 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              3:150290433 (GRCh38)
              3:150008220 (GRCh37)
              Canonical SPDI:
              NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150290422:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              LINC01214 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000003.12:g.150290433_150290438del, NC_000003.12:g.150290436_150290438del, NC_000003.12:g.150290437_150290438del, NC_000003.12:g.150290438del, NC_000003.12:g.150290438dup, NC_000003.12:g.150290437_150290438dup, NC_000003.12:g.150290436_150290438dup, NC_000003.12:g.150290435_150290438dup, NC_000003.12:g.150290434_150290438dup, NC_000003.12:g.150290433_150290438dup, NC_000003.12:g.150290432_150290438dup, NC_000003.12:g.150290428_150290438dup, NC_000003.11:g.150008220_150008225del, NC_000003.11:g.150008223_150008225del, NC_000003.11:g.150008224_150008225del, NC_000003.11:g.150008225del, NC_000003.11:g.150008225dup, NC_000003.11:g.150008224_150008225dup, NC_000003.11:g.150008223_150008225dup, NC_000003.11:g.150008222_150008225dup, NC_000003.11:g.150008221_150008225dup, NC_000003.11:g.150008220_150008225dup, NC_000003.11:g.150008219_150008225dup, NC_000003.11:g.150008215_150008225dup
              7.

              rs1491034164 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                CA>-
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1490980887 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  3:150301486 (GRCh38)
                  3:150019273 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:150301485:G:T
                  Gene:
                  LINC01214 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490976411 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    3:150267325 (GRCh38)
                    3:149985112 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:150267324:A:T
                    Gene:
                    LINC01214 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490960883 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      3:150266103 (GRCh38)
                      3:149983890 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:150266102:A:T
                      Gene:
                      LINC01214 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490894773 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        3:150273129 (GRCh38)
                        3:149990916 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:150273128:G:C
                        Gene:
                        LINC01214 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        HGVS:
                        12.

                        rs1490877747 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:150299763 (GRCh38)
                          3:150017550 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:150299762:A:G
                          Gene:
                          LINC01214 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.00003/8 (TOPMED)
                          HGVS:
                          13.

                          rs1490805491 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            T>C
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1490780590 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              3:150291308 (GRCh38)
                              3:150009096 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:150291308:T:TT
                              Gene:
                              LINC01214 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TT=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490695855 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:150309748 (GRCh38)
                                3:150027535 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:150309747:C:T
                                Gene:
                                LINC01214 (Varview), LOC107986141 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1490678623 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:150325346 (GRCh38)
                                  3:150043133 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:150325345:G:A
                                  Gene:
                                  LINC01214 (Varview), LOC107986141 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490670448 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->T [Show Flanks]
                                    Chromosome:
                                    3:150324363 (GRCh38)
                                    3:150042151 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:150324363:TTT:TTTT
                                    Gene:
                                    LINC01214 (Varview), LOC107986141 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TTTT=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490630750 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      3:150316873 (GRCh38)
                                      3:150034660 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:150316872:G:T
                                      Gene:
                                      LINC01214 (Varview), LOC107986141 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490613125 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        3:150318146 (GRCh38)
                                        3:150035933 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:150318145:G:C,NC_000003.12:150318145:G:T
                                        Gene:
                                        LINC01214 (Varview), LOC107986141 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490388400 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:150299197 (GRCh38)
                                          3:150016984 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:150299196:T:C
                                          Gene:
                                          LINC01214 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          T=0.5/1 (SGDP_PRJ)
                                          HGVS:

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