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Links from Gene

Items: 1 to 20 of 6764

1.

rs1491484896 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    3:195842116 (GRCh38)
    3:195568987 (GRCh37)
    Canonical SPDI:
    NC_000003.12:195842115:CA:
    Gene:
    LINC01983 (Varview), LOC107984010 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00008/1 (ALFA)
    HGVS:
    2.

    rs1491420217 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CA,CACA [Show Flanks]
      Chromosome:
      3:195838218 (GRCh38)
      3:195565090 (GRCh37)
      Canonical SPDI:
      NC_000003.12:195838218:A:ACA,NC_000003.12:195838218:A:ACACA
      Gene:
      LINC01983 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACA=0./0 (ALFA)
      HGVS:
      3.

      rs1491379406 has merged into rs58678449 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>-,CTCT,CTCTCT [Show Flanks]
        Chromosome:
        3:195857563 (GRCh38)
        3:195584434 (GRCh37)
        Canonical SPDI:
        NC_000003.12:195857553:TCTCTCTCTCT:TCTCTCTCT,NC_000003.12:195857553:TCTCTCTCTCT:TCTCTCTCTCTCT,NC_000003.12:195857553:TCTCTCTCTCT:TCTCTCTCTCTCTCT
        Gene:
        LINC01983 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TCTCTCTCTCTCTCT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.237079/422 (Korea1K)
        -=0.27256/4565 (TOMMO)
        -=0.27619/58 (Vietnamese)
        TC=0.352941/12 (GENOME_DK)
        -=0.451437/2261 (1000Genomes)
        -=0.453177/271 (NorthernSweden)
        -=0.478329/2141 (Estonian)
        HGVS:
        4.

        rs1491378207 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->CTCTCTTTCTTTCTTTCTCC [Show Flanks]
          Chromosome:
          3:195845752 (GRCh38)
          3:195572624 (GRCh37)
          Canonical SPDI:
          NC_000003.12:195845752::CTCTCTTTCTTTCTTTCTCC
          Gene:
          LINC01983 (Varview), LOC107984010 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          CTCTCTTTCTTTCTTTCTCC=0.00682/114 (TOMMO)
          CTCTCTTTCTTTCTTTCTCC=0.01094/20 (Korea1K)
          HGVS:
          5.

          rs1491332769 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            3:195845753 (GRCh38)
            3:195572624 (GRCh37)
            Canonical SPDI:
            NC_000003.12:195845751:TAT:T
            Gene:
            LINC01983 (Varview), LOC107984010 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.000101/14 (GnomAD)
            HGVS:
            6.

            rs1491329043 has merged into rs908916132 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TA>-,TATA,TATATA [Show Flanks]
              Chromosome:
              3:195838220 (GRCh38)
              3:195565091 (GRCh37)
              Canonical SPDI:
              NC_000003.12:195838217:TATA:TA,NC_000003.12:195838217:TATA:TATATA,NC_000003.12:195838217:TATA:TATATATA
              Gene:
              LINC01983 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TATATA=0./0 (ALFA)
              -=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1491326144 has merged into rs55858449 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                3:195842129 (GRCh38)
                3:195569000 (GRCh37)
                Canonical SPDI:
                NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                LINC01983 (Varview), LOC107984010 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAA=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.182573/88 (NorthernSweden)
                -=0.335663/1681 (1000Genomes)
                HGVS:
                8.

                rs1490966937 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:195845501 (GRCh38)
                  3:195572372 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:195845500:A:G
                  Gene:
                  LINC01983 (Varview), LOC107984010 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000283/5 (TOMMO)
                  HGVS:
                  9.

                  rs1490798621 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:195857685 (GRCh38)
                    3:195584556 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:195857684:T:C
                    Gene:
                    LINC01983 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490665245 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:195842347 (GRCh38)
                      3:195569218 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:195842346:T:C
                      Gene:
                      LINC01983 (Varview), LOC107984010 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00379/45 (ALFA)
                      C=0.00011/7 (GnomAD)
                      C=0.00288/21 (TOMMO)
                      C=0.00672/5 (Korea1K)
                      T=0.01786/1 (SGDP_PRJ)
                      C=0.22484/362 (KOREAN)
                      HGVS:
                      11.

                      rs1490488000 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:195849571 (GRCh38)
                        3:195576442 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:195849570:G:A
                        Gene:
                        LINC01983 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490282031 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          3:195859533 (GRCh38)
                          3:195586404 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:195859532:C:G,NC_000003.12:195859532:C:T
                          Gene:
                          LINC01983 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000342/1 (KOREAN)
                          HGVS:
                          13.

                          rs1490194913 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            3:195862046 (GRCh38)
                            3:195588917 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:195862045:C:G
                            Gene:
                            LINC01983 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1490168856 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:195846728 (GRCh38)
                              3:195573599 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:195846727:A:G
                              Gene:
                              LINC01983 (Varview), LOC107984010 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490039276 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                3:195843126 (GRCh38)
                                3:195569997 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:195843125:G:A,NC_000003.12:195843125:G:T
                                Gene:
                                LINC01983 (Varview), LOC107984010 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490006443 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->CTTTCCTT [Show Flanks]
                                  Chromosome:
                                  3:195845680 (GRCh38)
                                  3:195572552 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:195845680:TTCTTTCCTT:TTCTTTCCTTCTTTCCTT
                                  Gene:
                                  LINC01983 (Varview), LOC107984010 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTCTTTCCTTCTTTCCTT=0.000084/1 (ALFA)
                                  TTCTTTCC=0.000186/26 (GnomAD)
                                  TTCTTTCC=0.000625/4 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1489983859 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C,G [Show Flanks]
                                    Chromosome:
                                    3:195843893 (GRCh38)
                                    3:195570764 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:195843892:T:A,NC_000003.12:195843892:T:C,NC_000003.12:195843892:T:G
                                    Gene:
                                    LINC01983 (Varview), LOC107984010 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000019/5 (TOPMED)
                                    G=0.009847/18 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1489895970 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      3:195855096 (GRCh38)
                                      3:195581967 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:195855095:A:C
                                      Gene:
                                      LINC01983 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489877486 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        3:195842726 (GRCh38)
                                        3:195569597 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:195842725:C:A,NC_000003.12:195842725:C:T
                                        Gene:
                                        LINC01983 (Varview), LOC107984010 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00795/10 (KOREAN)
                                        A=0.25/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1489720757 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:195848372 (GRCh38)
                                          3:195575243 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:195848371:G:A
                                          Gene:
                                          LINC01983 (Varview), LOC107984010 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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