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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491421919 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    20:63049250 (GRCh38)
    20:61680603 (GRCh37)
    Canonical SPDI:
    NC_000020.11:63049250:T:TT
    Gene:
    LINC01749 (Varview), LINC01056 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TT=0./0 (ALFA)
    HGVS:
    2.

    rs1491164735 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TCTC>-,TC [Show Flanks]
      Chromosome:
      20:63049251 (GRCh38)
      20:61680603 (GRCh37)
      Canonical SPDI:
      NC_000020.11:63049249:CTCTC:C,NC_000020.11:63049249:CTCTC:CTC
      Gene:
      LINC01749 (Varview), LINC01056 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CTC=0./0 (ALFA)
      HGVS:
      3.

      rs1490938264 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        20:63043413 (GRCh38)
        20:61674765 (GRCh37)
        Canonical SPDI:
        NC_000020.11:63043412:C:A
        Gene:
        LINC01749 (Varview), LINC01056 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        A=0.000015/4 (TOPMED)
        HGVS:
        4.

        rs1490869451 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          20:63049710 (GRCh38)
          20:61681062 (GRCh37)
          Canonical SPDI:
          NC_000020.11:63049709:G:C
          Gene:
          LINC01749 (Varview), LINC01056 (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:
          5.

          rs1490842225 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            20:63050545 (GRCh38)
            20:61681897 (GRCh37)
            Canonical SPDI:
            NC_000020.11:63050544:C:G
            Gene:
            LINC01749 (Varview), LINC01056 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000015/4 (TOPMED)
            G=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1490798027 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              20:63044276 (GRCh38)
              20:61675628 (GRCh37)
              Canonical SPDI:
              NC_000020.11:63044275:T:C
              Gene:
              LINC01749 (Varview), LINC01056 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1490228709 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                20:63039820 (GRCh38)
                20:61671172 (GRCh37)
                Canonical SPDI:
                NC_000020.11:63039819:T:C,NC_000020.11:63039819:T:G
                Gene:
                LINC01749 (Varview), LINC01056 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000066/1 (ALFA)
                C=0.000014/2 (GnomAD)
                C=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1490206280 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GGCAC>- [Show Flanks]
                  Chromosome:
                  20:63037954 (GRCh38)
                  20:61669306 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:63037949:GCACGGCAC:GCAC
                  Gene:
                  LINC01749 (Varview), LINC00029 (Varview), LINC01056 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  -=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489854282 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    20:63053214 (GRCh38)
                    20:61684566 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:63053213:C:A
                    Gene:
                    LINC01749 (Varview), LINC01056 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000122/2 (ALFA)
                    A=0.000034/9 (TOPMED)
                    A=0.000036/5 (GnomAD)
                    A=0.000223/1 (Estonian)
                    HGVS:
                    10.

                    rs1489838865 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      20:63051098 (GRCh38)
                      20:61682450 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:63051097:C:T
                      Gene:
                      LINC01749 (Varview), LINC01056 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000008/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489819279 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        20:63037254 (GRCh38)
                        20:61668606 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:63037253:C:G,NC_000020.11:63037253:C:T
                        Gene:
                        LINC01749 (Varview), LINC00029 (Varview), LINC01056 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000042/11 (TOPMED)
                        HGVS:
                        12.

                        rs1489723759 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          20:63043934 (GRCh38)
                          20:61675286 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:63043933:C:A,NC_000020.11:63043933:C:G,NC_000020.11:63043933:C:T
                          Gene:
                          LINC01749 (Varview), LINC01056 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.00251/42 (TOMMO)
                          G=0.02053/60 (KOREAN)
                          HGVS:
                          13.

                          rs1489273351 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            20:63042060 (GRCh38)
                            20:61673412 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:63042059:G:A
                            Gene:
                            LINC01749 (Varview), LINC01056 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489218659 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              20:63046807 (GRCh38)
                              20:61678159 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:63046806:A:G
                              Gene:
                              LINC01749 (Varview), LINC01056 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488972793 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                20:63050356 (GRCh38)
                                20:61681708 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:63050355:A:G
                                Gene:
                                LINC01749 (Varview), LINC01056 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488928856 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:63048734 (GRCh38)
                                  20:61680086 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:63048733:C:T
                                  Gene:
                                  LINC01749 (Varview), LINC01056 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488903354 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->TAACTAGGA [Show Flanks]
                                    Chromosome:
                                    20:63036490 (GRCh38)
                                    20:61667843 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:63036490:TAACTAGGA:TAACTAGGATAACTAGGA
                                    Gene:
                                    LINC01749 (Varview), LINC00029 (Varview), LINC01056 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TAACTAGGATAACTAGGA=0./0 (ALFA)
                                    TAACTAGGA=0.000011/3 (TOPMED)
                                    TAACTAGGA=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488774423 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      20:63049832 (GRCh38)
                                      20:61681184 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:63049831:T:G
                                      Gene:
                                      LINC01749 (Varview), LINC01056 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000026/7 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488661433 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:63049216 (GRCh38)
                                        20:61680568 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:63049215:T:C
                                        Gene:
                                        LINC01749 (Varview), LINC01056 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.00017/2 (ALFA)
                                        T=0.5/2 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1487959813 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          20:63053944 (GRCh38)
                                          20:61685296 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:63053943:G:C
                                          Gene:
                                          LINC01749 (Varview), LINC01056 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,intron_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000043/6 (GnomAD)
                                          C=0.000053/14 (TOPMED)
                                          HGVS:

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