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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491343490 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTTTTTTTTTTTCCTCTCTTTTTCTCCTCTTCTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491210498 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      20:5503159 (GRCh38)
      20:5483805 (GRCh37)
      Canonical SPDI:
      NC_000020.11:5503158:CA:
      Gene:
      LINC00654 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00211/25 (ALFA)
      HGVS:
      3.

      rs1490421408 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        20:5503164 (GRCh38)
        20:5483810 (GRCh37)
        Canonical SPDI:
        NC_000020.11:5503163:A:C
        Gene:
        LINC00654 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490355260 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          20:5502400 (GRCh38)
          20:5483046 (GRCh37)
          Canonical SPDI:
          NC_000020.11:5502399:C:G
          Gene:
          LINC00654 (Varview), LOC124904863 (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:
          5.

          rs1490146965 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            20:5496865 (GRCh38)
            20:5477511 (GRCh37)
            Canonical SPDI:
            NC_000020.11:5496864:C:T
            Gene:
            LINC00654 (Varview), LOC124904863 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490021666 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TACTC>- [Show Flanks]
              Chromosome:
              20:5497205 (GRCh38)
              20:5477851 (GRCh37)
              Canonical SPDI:
              NC_000020.11:5497202:TCTACTC:TC
              Gene:
              LINC00654 (Varview), LOC124904863 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TC=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1489970159 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:5496319 (GRCh38)
                20:5476965 (GRCh37)
                Canonical SPDI:
                NC_000020.11:5496318:A:G
                Gene:
                LINC00654 (Varview), LOC124904863 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_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:
                8.

                rs1489941747 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:5503331 (GRCh38)
                  20:5483977 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:5503330:C:T
                  Gene:
                  LINC00654 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000142/2 (ALFA)
                  T=0.000072/19 (TOPMED)
                  T=0.000079/11 (GnomAD)
                  T=0.000312/2 (1000Genomes)
                  HGVS:
                  9.

                  rs1489513929 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    20:5504299 (GRCh38)
                    20:5484945 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:5504298:C:A,NC_000020.11:5504298:C:T
                    Gene:
                    LINC00654 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489179654 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      20:5498221 (GRCh38)
                      20:5478867 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:5498220:G:T
                      Gene:
                      LINC00654 (Varview), LOC124904863 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489150103 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        20:5500834 (GRCh38)
                        20:5481480 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:5500833:C:T
                        Gene:
                        LINC00654 (Varview), LOC124904863 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.04721/771 (ALFA)
                        T=0.02505/420 (TOMMO)
                        T=0.03057/56 (Korea1K)
                        T=0.05514/161 (KOREAN)
                        C=0.5/37 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1489101079 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TCT>- [Show Flanks]
                          Chromosome:
                          20:5504366 (GRCh38)
                          20:5485012 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:5504363:CTTCT:CT
                          Gene:
                          LINC00654 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CT=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488946675 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            20:5505996 (GRCh38)
                            20:5486642 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:5505995:G:A
                            Gene:
                            LINC00654 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488740804 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              20:5503974 (GRCh38)
                              20:5484620 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:5503973:T:C
                              Gene:
                              LINC00654 (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:
                              15.

                              rs1488514027 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                20:5496827 (GRCh38)
                                20:5477473 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:5496826:C:G
                                Gene:
                                LINC00654 (Varview), LOC124904863 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1488467850 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  20:5501959 (GRCh38)
                                  20:5482605 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:5501958:G:A
                                  Gene:
                                  LINC00654 (Varview), LOC124904863 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488298363 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    20:5504208 (GRCh38)
                                    20:5484854 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:5504207:T:G
                                    Gene:
                                    LINC00654 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.001916/32 (ALFA)
                                    G=0.000937/6 (1000Genomes)
                                    G=0.001065/149 (GnomAD)
                                    T=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    18.

                                    rs1488289940 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CCT>- [Show Flanks]
                                      Chromosome:
                                      20:5498051 (GRCh38)
                                      20:5478697 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:5498048:CTCCT:CT
                                      Gene:
                                      LINC00654 (Varview), LOC124904863 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      CT=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488266140 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        20:5503326 (GRCh38)
                                        20:5483972 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:5503325:G:T
                                        Gene:
                                        LINC00654 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488243994 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:5503244 (GRCh38)
                                          20:5483890 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:5503243:T:C
                                          Gene:
                                          LINC00654 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000066/1 (ALFA)
                                          C=0.000022/3 (GnomAD)
                                          HGVS:

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