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Links from Gene

Items: 1 to 20 of 2599

1.

rs1491245343 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    2:6631775 (GRCh38)
    2:6771907 (GRCh37)
    Canonical SPDI:
    NC_000002.12:6631774:AG:
    Gene:
    LINC01246 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000169/2 (ALFA)
    -=0.00052/71 (GnomAD)
    HGVS:
    2.

    rs1490936557 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:6627659 (GRCh38)
      2:6767791 (GRCh37)
      Canonical SPDI:
      NC_000002.12:6627658:C:T
      Gene:
      LINC01246 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489835282 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        2:6635697 (GRCh38)
        2:6775829 (GRCh37)
        Canonical SPDI:
        NC_000002.12:6635696:A:G,NC_000002.12:6635696:A:T
        Gene:
        LINC01246 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        G=0.000106/2 (TOMMO)
        HGVS:
        4.

        rs1489782454 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:6635452 (GRCh38)
          2:6775584 (GRCh37)
          Canonical SPDI:
          NC_000002.12:6635451:C:T
          Gene:
          LINC01246 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1488820734 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            2:6626256 (GRCh38)
            2:6766388 (GRCh37)
            Canonical SPDI:
            NC_000002.12:6626255:A:C
            Gene:
            LINC01246 (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:
            6.

            rs1488796893 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:6630480 (GRCh38)
              2:6770612 (GRCh37)
              Canonical SPDI:
              NC_000002.12:6630479:T:C
              Gene:
              LINC01246 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000014/2 (GnomAD)
              C=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1488585094 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                2:6633373 (GRCh38)
                2:6773505 (GRCh37)
                Canonical SPDI:
                NC_000002.12:6633372:C:A
                Gene:
                LINC01246 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1488544980 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  2:6626426 (GRCh38)
                  2:6766558 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:6626425:G:T
                  Gene:
                  LINC01246 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488426205 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    2:6629952 (GRCh38)
                    2:6770084 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:6629951:A:C
                    Gene:
                    LINC01246 (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:
                    10.

                    rs1488404986 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      2:6634464 (GRCh38)
                      2:6774596 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:6634463:C:G
                      Gene:
                      LINC01246 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488010011 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:6631255 (GRCh38)
                        2:6771387 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:6631254:A:G
                        Gene:
                        LINC01246 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1487902338 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->T [Show Flanks]
                          Chromosome:
                          2:6628326 (GRCh38)
                          2:6768459 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:6628326:T:TT
                          Gene:
                          LINC01246 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TT=0./0 (ALFA)
                          T=0.000015/4 (TOPMED)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1487421263 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:6635514 (GRCh38)
                            2:6775646 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:6635513:T:C
                            Gene:
                            LINC01246 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1486828842 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              2:6631383 (GRCh38)
                              2:6771515 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:6631382:A:T
                              Gene:
                              LINC01246 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1486616214 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:6630331 (GRCh38)
                                2:6770463 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:6630330:C:T
                                Gene:
                                LINC01246 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486581989 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:6635222 (GRCh38)
                                  2:6775354 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:6635221:G:A
                                  Gene:
                                  LINC01246 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486477240 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    2:6630830 (GRCh38)
                                    2:6770962 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:6630829:G:C
                                    Gene:
                                    LINC01246 (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:
                                    18.

                                    rs1486374143 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:6631707 (GRCh38)
                                      2:6771839 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:6631706:A:G
                                      Gene:
                                      LINC01246 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.00032/5 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1486334399 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:6627918 (GRCh38)
                                        2:6768050 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:6627917:G:A
                                        Gene:
                                        LINC01246 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486279321 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:6627007 (GRCh38)
                                          2:6767139 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:6627006:T:C
                                          Gene:
                                          LINC01246 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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