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Links from Gene

Items: 1 to 20 of 2493

1.

rs1491378476 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    9:128725491 (GRCh38)
    9:131487770 (GRCh37)
    Canonical SPDI:
    NC_000009.12:128725490:CT:
    Gene:
    ZDHHC12 (Varview), ZDHHC12-DT (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1490892171 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      9:128732635 (GRCh38)
      9:131494914 (GRCh37)
      Canonical SPDI:
      NC_000009.12:128732634:G:T
      Gene:
      ZER1 (Varview), ZDHHC12-DT (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490787027 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        9:128724631 (GRCh38)
        9:131486910 (GRCh37)
        Canonical SPDI:
        NC_000009.12:128724630:T:C
        Gene:
        ZDHHC12 (Varview), ZDHHC12-DT (Varview)
        Functional Consequence:
        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000283/5 (TOMMO)
        HGVS:
        4.

        rs1490603284 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          9:128723476 (GRCh38)
          9:131485755 (GRCh37)
          Canonical SPDI:
          NC_000009.12:128723475:T:G
          Gene:
          ZDHHC12 (Varview), ZDHHC12-DT (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.00481/57 (ALFA)
          G=0.00043/7 (TOMMO)
          G=0.01341/39 (KOREAN)
          HGVS:
          5.

          rs1490601913 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTCCGCTGTGCCCTCCCCCGCG>-,CTCCGCTGTGCCCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG [Show Flanks]
            Chromosome:
            9:128724386 (GRCh38)
            9:131486665 (GRCh37)
            Canonical SPDI:
            NC_000009.12:128724374:CCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG:CCTCCCCCGCG,NC_000009.12:128724374:CCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG:CCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG
            Gene:
            ZDHHC12 (Varview), ZDHHC12-DT (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCTCCCCCGCG=0./0 (ALFA)
            CCTCCCCCGCGCTCCGCTGTGC=0.00021/4 (TOMMO)
            CCTCCCCCGCGCTCCGCTGTGC=0.00056/1 (Korea1K)
            HGVS:
            6.

            rs1490110858 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              9:128725513 (GRCh38)
              9:131487792 (GRCh37)
              Canonical SPDI:
              NC_000009.12:128725512:A:T
              Gene:
              ZDHHC12 (Varview), ZDHHC12-DT (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency
              MAF:
              T=0.00074/21 (TOMMO)
              HGVS:
              7.

              rs1490041083 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                9:128726209 (GRCh38)
                9:131488488 (GRCh37)
                Canonical SPDI:
                NC_000009.12:128726208:C:G,NC_000009.12:128726208:C:T
                Gene:
                ZDHHC12-DT (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)
                G=0.000071/2 (TOMMO)
                HGVS:
                8.

                rs1489701111 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  9:128733019 (GRCh38)
                  9:131495298 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:128733018:AAA:AA
                  Gene:
                  ZER1 (Varview), ZDHHC12-DT (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489513610 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    9:128730379 (GRCh38)
                    9:131492658 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:128730378:G:C
                    Gene:
                    ZER1 (Varview), ZDHHC12-DT (Varview)
                    Functional Consequence:
                    intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488718748 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      9:128733617 (GRCh38)
                      9:131495896 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:128733616:C:A
                      Gene:
                      ZER1 (Varview), ZDHHC12-DT (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488105924 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:128723077 (GRCh38)
                        9:131485356 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:128723076:T:C
                        Gene:
                        ZDHHC12 (Varview), ZDHHC12-DT (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000224/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000223/1 (Estonian)
                        HGVS:
                        12.

                        rs1487781239 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:128731162 (GRCh38)
                          9:131493441 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:128731161:A:G
                          Gene:
                          ZER1 (Varview), ZDHHC12-DT (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1487649839 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:128730215 (GRCh38)
                            9:131492494 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:128730214:G:A
                            Gene:
                            ZER1 (Varview), ZDHHC12-DT (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.00003/8 (TOPMED)
                            A=0.000036/5 (GnomAD)
                            A=0.000342/1 (KOREAN)
                            HGVS:
                            14.

                            rs1487599544 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->GC [Show Flanks]
                              Chromosome:
                              9:128727982 (GRCh38)
                              9:131490262 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:128727982::GC
                              Gene:
                              ZDHHC12-DT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GC=0./0 (ALFA)
                              GC=0.000007/1 (GnomAD)
                              GC=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487528679 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:128726204 (GRCh38)
                                9:131488483 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:128726203:G:A
                                Gene:
                                ZDHHC12-DT (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487347426 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:128723973 (GRCh38)
                                  9:131486252 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:128723972:G:A
                                  Gene:
                                  ZDHHC12 (Varview), ZDHHC12-DT (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487121688 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:128731949 (GRCh38)
                                    9:131494228 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:128731948:T:C
                                    Gene:
                                    ZER1 (Varview), ZDHHC12-DT (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487018049 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:128727138 (GRCh38)
                                      9:131489417 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:128727137:A:G
                                      Gene:
                                      ZDHHC12-DT (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486415993 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:128732979 (GRCh38)
                                        9:131495258 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:128732978:A:G
                                        Gene:
                                        ZER1 (Varview), ZDHHC12-DT (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0./0 (KOREAN)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000042/11 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486365839 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:128728189 (GRCh38)
                                          9:131490468 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:128728188:C:T
                                          Gene:
                                          ZDHHC12-DT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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