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Links from Gene

Items: 1 to 20 of 1660

1.

rs1490944605 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    14:37901925 (GRCh38)
    14:38371131 (GRCh37)
    Canonical SPDI:
    NC_000014.9:37901925:A:AA
    Gene:
    LINC00517 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    AA=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490503513 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:37903513 (GRCh38)
      14:38372718 (GRCh37)
      Canonical SPDI:
      NC_000014.9:37903512:G:A
      Gene:
      LINC00517 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000066/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1490491099 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        14:37903652 (GRCh38)
        14:38372857 (GRCh37)
        Canonical SPDI:
        NC_000014.9:37903651:C:G
        Gene:
        LINC00517 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1490086329 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          14:37895880 (GRCh38)
          14:38365085 (GRCh37)
          Canonical SPDI:
          NC_000014.9:37895879:T:C
          Gene:
          LINC00517 (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_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:
          5.

          rs1489409007 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:37896475 (GRCh38)
            14:38365680 (GRCh37)
            Canonical SPDI:
            NC_000014.9:37896474:G:A
            Gene:
            LINC00517 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1489252302 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              14:37901168 (GRCh38)
              14:38370373 (GRCh37)
              Canonical SPDI:
              NC_000014.9:37901167:G:T
              Gene:
              LINC00517 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489009711 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:37896585 (GRCh38)
                14:38365790 (GRCh37)
                Canonical SPDI:
                NC_000014.9:37896584:C:T
                Gene:
                LINC00517 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488659858 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  14:37898645 (GRCh38)
                  14:38367850 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:37898644:G:A
                  Gene:
                  LINC00517 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488528278 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    14:37898107 (GRCh38)
                    14:38367312 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:37898106:T:C,NC_000014.9:37898106:T:G
                    Gene:
                    LINC00517 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488307338 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      14:37898243 (GRCh38)
                      14:38367448 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:37898242:A:C,NC_000014.9:37898242:A:G
                      Gene:
                      LINC00517 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488275049 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:37899988 (GRCh38)
                        14:38369193 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:37899987:A:G
                        Gene:
                        LINC00517 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487754709 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:37897356 (GRCh38)
                          14:38366561 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:37897355:T:C
                          Gene:
                          LINC00517 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000021/3 (GnomAD)
                          C=0.00003/8 (TOPMED)
                          HGVS:
                          13.

                          rs1487684976 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            14:37901789 (GRCh38)
                            14:38370994 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:37901788:T:A
                            Gene:
                            LINC00517 (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)
                            A=0.000248/4 (TOMMO)
                            A=0.000342/1 (KOREAN)
                            HGVS:
                            14.

                            rs1487543509 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              14:37898637 (GRCh38)
                              14:38367842 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:37898636:C:T
                              Gene:
                              LINC00517 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487441283 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AT>- [Show Flanks]
                                Chromosome:
                                14:37897617 (GRCh38)
                                14:38366822 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:37897615:TAT:T
                                Gene:
                                LINC00517 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486569343 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:37899294 (GRCh38)
                                  14:38368499 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:37899293:A:G
                                  Gene:
                                  LINC00517 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1486227100 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:37897633 (GRCh38)
                                    14:38366838 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:37897632:G:A
                                    Gene:
                                    LINC00517 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485589231 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:37899802 (GRCh38)
                                      14:38369007 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:37899801:G:A
                                      Gene:
                                      LINC00517 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485486906 has merged into rs946229812 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>-,TT [Show Flanks]
                                        Chromosome:
                                        14:37898620 (GRCh38)
                                        14:38367825 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:37898619:TTTTTTTT:TTTTTTT,NC_000014.9:37898619:TTTTTTTT:TTTTTTTTT
                                        Gene:
                                        LINC00517 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTT=0.00054/10 (ALFA)
                                        -=0.000321/45 (GnomAD)
                                        -=0.002232/10 (Estonian)
                                        HGVS:
                                        20.

                                        rs1484766037 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          14:37901380 (GRCh38)
                                          14:38370585 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:37901379:T:G
                                          Gene:
                                          LINC00517 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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