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Links from Nucleotide

Items: 1 to 20 of 464

1.

rs1490743415 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    5:180835702 (GRCh38)
    5:180262702 (GRCh37)
    Canonical SPDI:
    NC_000005.10:180835701:T:A
    Gene:
    ZFP62 (Varview), LINC00847 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000029/4 (GnomAD)
    A=0.000034/9 (TOPMED)
    HGVS:
    2.

    rs1486945710 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      5:180835368 (GRCh38)
      5:180262368 (GRCh37)
      Canonical SPDI:
      NC_000005.10:180835367:T:G
      Gene:
      ZFP62 (Varview), LINC00847 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000214/3 (ALFA)
      G=0.000021/3 (GnomAD)
      G=0.000045/12 (TOPMED)
      HGVS:
      3.

      rs1485875946 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        5:180831835 (GRCh38)
        5:180258835 (GRCh37)
        Canonical SPDI:
        NC_000005.10:180831834:GG:G
        Gene:
        ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1483185880 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          5:180835485 (GRCh38)
          5:180262485 (GRCh37)
          Canonical SPDI:
          NC_000005.10:180835484:A:G
          Gene:
          ZFP62 (Varview), LINC00847 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1479985997 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->T,TT [Show Flanks]
            Chromosome:
            5:180835338 (GRCh38)
            5:180262339 (GRCh37)
            Canonical SPDI:
            NC_000005.10:180835338:T:TT,NC_000005.10:180835338:T:TTT
            Gene:
            ZFP62 (Varview), LINC00847 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTT=0./0 (ALFA)
            TT=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1478599001 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:180835529 (GRCh38)
              5:180262529 (GRCh37)
              Canonical SPDI:
              NC_000005.10:180835528:A:G
              Gene:
              ZFP62 (Varview), LINC00847 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000142/2 (ALFA)
              G=0.000015/4 (TOPMED)
              G=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1472449436 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                5:180835723 (GRCh38)
                5:180262723 (GRCh37)
                Canonical SPDI:
                NC_000005.10:180835722:C:T
                Gene:
                ZFP62 (Varview), LINC00847 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1471540724 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:180835208 (GRCh38)
                  5:180262208 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:180835207:C:T
                  Gene:
                  ZFP62 (Varview), LINC00847 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,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:
                  9.

                  rs1470150338 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:180834377 (GRCh38)
                    5:180261377 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:180834376:C:T
                    Gene:
                    ZFP62 (Varview), LINC00847 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                    HGVS:
                    10.

                    rs1468270624 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      5:180831061 (GRCh38)
                      5:180258062 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:180831061:A:AA
                      Gene:
                      ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1466058566 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:180831097 (GRCh38)
                        5:180258097 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:180831096:G:A
                        Gene:
                        ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1463977230 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:180835397 (GRCh38)
                          5:180262397 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:180835396:C:T
                          Gene:
                          ZFP62 (Varview), LINC00847 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1462161097 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            5:180831937 (GRCh38)
                            5:180258937 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:180831936:A:
                            Gene:
                            ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.000071/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1461723481 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              5:180834823 (GRCh38)
                              5:180261823 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:180834822:G:C
                              Gene:
                              ZFP62 (Varview), LINC00847 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1461274771 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                5:180834342 (GRCh38)
                                5:180261342 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:180834341:C:T
                                Gene:
                                ZFP62 (Varview), LINC00847 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,genic_upstream_transcript_variant,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:
                                16.

                                rs1460169025 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  5:180834606 (GRCh38)
                                  5:180261606 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:180834605:A:T
                                  Gene:
                                  ZFP62 (Varview), LINC00847 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00049/8 (ALFA)
                                  T=0.00094/6 (1000Genomes)
                                  T=0.00179/8 (Estonian)
                                  T=0.00205/6 (KOREAN)
                                  T=0.00347/58 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1459917205 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    5:180835610 (GRCh38)
                                    5:180262610 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:180835609:T:C
                                    Gene:
                                    ZFP62 (Varview), LINC00847 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1459544708 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:180831007 (GRCh38)
                                      5:180258007 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:180831006:G:A
                                      Gene:
                                      ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,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:
                                      19.

                                      rs1457716910 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:180834329 (GRCh38)
                                        5:180261329 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:180834328:T:C
                                        Gene:
                                        ZFP62 (Varview), LINC00847 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1457196595 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CTT>- [Show Flanks]
                                          Chromosome:
                                          5:180835580 (GRCh38)
                                          5:180262580 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:180835577:TTCTT:TT
                                          Gene:
                                          ZFP62 (Varview), LINC00847 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TT=0.000071/1 (ALFA)
                                          -=0.000015/4 (TOPMED)
                                          -=0.000021/3 (GnomAD)
                                          HGVS:

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