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Links from Gene

Items: 1 to 20 of 645

1.

rs1488945616 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    6:27019287 (GRCh38)
    6:26987066 (GRCh37)
    Canonical SPDI:
    NC_000006.12:27019286:C:G
    Gene:
    LINC00240 (Varview), LOC100270746 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000014/2 (GnomAD)
    G=0.000023/6 (TOPMED)
    HGVS:
    2.

    rs1488944475 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AC>- [Show Flanks]
      Chromosome:
      6:27019819 (GRCh38)
      6:26987598 (GRCh37)
      Canonical SPDI:
      NC_000006.12:27019816:ACAC:AC
      Gene:
      LINC00240 (Varview), LOC100270746 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      ACAC=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1487331319 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        6:27021234 (GRCh38)
        6:26989013 (GRCh37)
        Canonical SPDI:
        NC_000006.12:27021233:A:
        Gene:
        LINC00240 (Varview), LOC100270746 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000084/1 (ALFA)
        -=0.000015/4 (TOPMED)
        -=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1487095298 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:27022059 (GRCh38)
          6:26989838 (GRCh37)
          Canonical SPDI:
          NC_000006.12:27022058:T:C
          Gene:
          LINC00240 (Varview), LOC100270746 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1485676799 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AGT>- [Show Flanks]
            Chromosome:
            6:27020610 (GRCh38)
            6:26988389 (GRCh37)
            Canonical SPDI:
            NC_000006.12:27020609:AGT:
            Gene:
            LINC00240 (Varview), LOC100270746 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000071/1 (ALFA)
            -=0.000014/2 (GnomAD)
            -=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1484406497 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              6:27018979 (GRCh38)
              6:26986758 (GRCh37)
              Canonical SPDI:
              NC_000006.12:27018978:T:A
              Gene:
              LINC00240 (Varview), LOC100270746 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1483530826 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:27019633 (GRCh38)
                6:26987412 (GRCh37)
                Canonical SPDI:
                NC_000006.12:27019632:G:A
                Gene:
                LINC00240 (Varview), LOC100270746 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000026/7 (TOPMED)
                A=0.000342/1 (KOREAN)
                HGVS:
                8.

                rs1482475108 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ATA>- [Show Flanks]
                  Chromosome:
                  6:27021947 (GRCh38)
                  6:26989726 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:27021944:TAATA:TA
                  Gene:
                  LINC00240 (Varview), LOC100270746 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1480256011 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:27020492 (GRCh38)
                    6:26988271 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:27020491:C:T
                    Gene:
                    LINC00240 (Varview), LOC100270746 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1478754067 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:27019890 (GRCh38)
                      6:26987669 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:27019889:A:G
                      Gene:
                      LINC00240 (Varview), LOC100270746 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000023/6 (TOPMED)
                      HGVS:
                      11.

                      rs1476459551 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        6:27021426 (GRCh38)
                        6:26989205 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:27021425:G:
                        Gene:
                        LINC00240 (Varview), LOC100270746 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1476069703 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          6:27020861 (GRCh38)
                          6:26988640 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:27020860:G:A,NC_000006.12:27020860:G:T
                          Gene:
                          LINC00240 (Varview), LOC100270746 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1475489065 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            6:27020724 (GRCh38)
                            6:26988503 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:27020723:GGGG:GGG
                            Gene:
                            LINC00240 (Varview), LOC100270746 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GGG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1474538168 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              G>- [Show Flanks]
                              Chromosome:
                              6:27019140 (GRCh38)
                              6:26986919 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:27019139:GG:G
                              Gene:
                              LINC00240 (Varview), LOC100270746 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GG=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1474077315 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                6:27020230 (GRCh38)
                                6:26988009 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:27020229:G:T
                                Gene:
                                LINC00240 (Varview), LOC100270746 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000011/3 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1472805058 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  6:27022185 (GRCh38)
                                  6:26989964 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:27022184:A:G
                                  Gene:
                                  LINC00240 (Varview), LOC100270746 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000142/2 (ALFA)
                                  G=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1472205635 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    6:27022030 (GRCh38)
                                    6:26989809 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:27022029:G:C
                                    Gene:
                                    LINC00240 (Varview), LOC100270746 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1472062928 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:27020031 (GRCh38)
                                      6:26987810 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:27020030:C:T
                                      Gene:
                                      LINC00240 (Varview), LOC100270746 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1470875268 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>-,TT [Show Flanks]
                                        Chromosome:
                                        6:27020558 (GRCh38)
                                        6:26988337 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:27020557:TTTTT:TTTT,NC_000006.12:27020557:TTTTT:TTTTTT
                                        Gene:
                                        LINC00240 (Varview), LOC100270746 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTT=0.000071/1 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1470676966 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          6:27020095 (GRCh38)
                                          6:26987874 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:27020094:T:G
                                          Gene:
                                          LINC00240 (Varview), LOC100270746 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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