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Links from Gene

Items: 1 to 20 of 4924

1.

rs1491235232 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A,AC [Show Flanks]
    Chromosome:
    20:22675757 (GRCh38)
    20:22656396 (GRCh37)
    Canonical SPDI:
    NC_000020.11:22675757::A,NC_000020.11:22675757::AC
    Gene:
    LINC01747 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    AC=0./0 (ALFA)
    AC=0.000008/1 (GnomAD)
    HGVS:
    2.

    rs1491188308 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GG>- [Show Flanks]
      Chromosome:
      20:22675758 (GRCh38)
      20:22656396 (GRCh37)
      Canonical SPDI:
      NC_000020.11:22675756:GGG:G
      Gene:
      LINC01747 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      -=0.0017/7 (Estonian)
      HGVS:
      3.

      rs1491160130 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        20:22672871 (GRCh38)
        20:22653509 (GRCh37)
        Canonical SPDI:
        NC_000020.11:22672869:TGT:T
        Gene:
        LINC01747 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.000235/30 (GnomAD)
        HGVS:
        4.

        rs1490653977 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          20:22676243 (GRCh38)
          20:22656881 (GRCh37)
          Canonical SPDI:
          NC_000020.11:22676242:G:A,NC_000020.11:22676242:G:T
          Gene:
          LINC01747 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490602989 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            20:22675679 (GRCh38)
            20:22656317 (GRCh37)
            Canonical SPDI:
            NC_000020.11:22675678:T:C
            Gene:
            LINC01747 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1490434043 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAATA>- [Show Flanks]
              Chromosome:
              20:22675004 (GRCh38)
              20:22655642 (GRCh37)
              Canonical SPDI:
              NC_000020.11:22675002:AAAAAAAAAAAATA:A
              Gene:
              LINC01747 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              -=0.000022/3 (GnomAD)
              HGVS:
              7.

              rs1490425008 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:22682481 (GRCh38)
                20:22663119 (GRCh37)
                Canonical SPDI:
                NC_000020.11:22682480:A:G
                Gene:
                LINC01747 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490369835 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:22669520 (GRCh38)
                  20:22650158 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:22669519:C:T
                  Gene:
                  LINC01747 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490315358 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    20:22668517 (GRCh38)
                    20:22649155 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:22668516:C:A,NC_000020.11:22668516:C:G
                    Gene:
                    LINC01747 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489964224 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      20:22682860 (GRCh38)
                      20:22663498 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:22682859:C:G
                      Gene:
                      LINC01747 (Varview)
                      Functional Consequence:
                      genic_downstream_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:
                      11.

                      rs1489943385 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        20:22674384 (GRCh38)
                        20:22655022 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:22674383:T:C
                        Gene:
                        LINC01747 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489934249 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          20:22681921 (GRCh38)
                          20:22662559 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:22681920:G:
                          Gene:
                          LINC01747 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489878399 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            20:22680899 (GRCh38)
                            20:22661537 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:22680898:C:T
                            Gene:
                            LINC01747 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489824424 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              20:22668067 (GRCh38)
                              20:22648705 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:22668066:T:C
                              Gene:
                              LINC01747 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_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:
                              15.

                              rs1489564057 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                20:22670909 (GRCh38)
                                20:22651547 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:22670908:T:C
                                Gene:
                                LINC01747 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,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:
                                16.

                                rs1489436898 has merged into rs923239520 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  20:22674992 (GRCh38)
                                  20:22655630 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:22674980:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  LINC01747 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAA=0./0 (ALFA)
                                  HGVS:
                                  NC_000020.11:g.22674992_22675014del, NC_000020.11:g.22674993_22675014del, NC_000020.11:g.22674994_22675014del, NC_000020.11:g.22674995_22675014del, NC_000020.11:g.22674996_22675014del, NC_000020.11:g.22674997_22675014del, NC_000020.11:g.22674998_22675014del, NC_000020.11:g.22674999_22675014del, NC_000020.11:g.22675000_22675014del, NC_000020.11:g.22675001_22675014del, NC_000020.11:g.22675002_22675014del, NC_000020.11:g.22675003_22675014del, NC_000020.11:g.22675004_22675014del, NC_000020.11:g.22675005_22675014del, NC_000020.11:g.22675006_22675014del, NC_000020.11:g.22675007_22675014del, NC_000020.11:g.22675008_22675014del, NC_000020.11:g.22675009_22675014del, NC_000020.11:g.22675010_22675014del, NC_000020.11:g.22675011_22675014del, NC_000020.11:g.22675012_22675014del, NC_000020.11:g.22675013_22675014del, NC_000020.11:g.22675014del, NC_000020.11:g.22675014dup, NC_000020.11:g.22675013_22675014dup, NC_000020.11:g.22675012_22675014dup, NC_000020.11:g.22675011_22675014dup, NC_000020.11:g.22675010_22675014dup, NC_000020.11:g.22675009_22675014dup, NC_000020.11:g.22675008_22675014dup, NC_000020.11:g.22675006_22675014dup, NC_000020.10:g.22655630_22655652del, NC_000020.10:g.22655631_22655652del, NC_000020.10:g.22655632_22655652del, NC_000020.10:g.22655633_22655652del, NC_000020.10:g.22655634_22655652del, NC_000020.10:g.22655635_22655652del, NC_000020.10:g.22655636_22655652del, NC_000020.10:g.22655637_22655652del, NC_000020.10:g.22655638_22655652del, NC_000020.10:g.22655639_22655652del, NC_000020.10:g.22655640_22655652del, NC_000020.10:g.22655641_22655652del, NC_000020.10:g.22655642_22655652del, NC_000020.10:g.22655643_22655652del, NC_000020.10:g.22655644_22655652del, NC_000020.10:g.22655645_22655652del, NC_000020.10:g.22655646_22655652del, NC_000020.10:g.22655647_22655652del, NC_000020.10:g.22655648_22655652del, NC_000020.10:g.22655649_22655652del, NC_000020.10:g.22655650_22655652del, NC_000020.10:g.22655651_22655652del, NC_000020.10:g.22655652del, NC_000020.10:g.22655652dup, NC_000020.10:g.22655651_22655652dup, NC_000020.10:g.22655650_22655652dup, NC_000020.10:g.22655649_22655652dup, NC_000020.10:g.22655648_22655652dup, NC_000020.10:g.22655647_22655652dup, NC_000020.10:g.22655646_22655652dup, NC_000020.10:g.22655644_22655652dup
                                  17.

                                  rs1489392256 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    20:22680798 (GRCh38)
                                    20:22661436 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:22680797:C:G
                                    Gene:
                                    LINC01747 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489061285 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      20:22686990 (GRCh38)
                                      20:22667628 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:22686989:T:C
                                      Gene:
                                      LINC01747 (Varview), LOC124904963 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1489037603 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        20:22674966 (GRCh38)
                                        20:22655604 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:22674965:G:C
                                        Gene:
                                        LINC01747 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488979544 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          20:22680494 (GRCh38)
                                          20:22661133 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:22680494:AAAAAA:AAAAAAA
                                          Gene:
                                          LINC01747 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AAAAAAA=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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