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Items: 1 to 20 of 4872

1.

rs1491527623 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    20:63960339 (GRCh38)
    20:62591693 (GRCh37)
    Canonical SPDI:
    NC_000020.11:63960339::C
    Gene:
    ZNF512B (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.00046/8 (TOMMO)
    HGVS:
    2.

    rs1491519404 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      20:63970920 (GRCh38)
      20:62602273 (GRCh37)
      Canonical SPDI:
      NC_000020.11:63970919:TT:
      Gene:
      ZNF512B (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00809/96 (ALFA)
      -=0.00026/3 (TOMMO)
      -=0.01327/6 (NorthernSweden)
      -=0.02366/124 (GnomAD)
      ...more
      HGVS:
      3.

      rs1491499079 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        20:63970920 (GRCh38)
        20:62602274 (GRCh37)
        Canonical SPDI:
        NC_000020.11:63970920::C
        Gene:
        ZNF512B (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.00034/4 (ALFA)
        C=0.00007/1 (TOMMO)
        C=0.00261/6 (GnomAD)
        ...more
        HGVS:
        4.

        rs1491230051 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          GG>-
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491217771 has merged into rs551560956 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            20:63971838 (GRCh38)
            20:62603191 (GRCh37)
            Canonical SPDI:
            NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            ZNF512B (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTT=0./0 (ALFA)
            -=0.2376/1190 (1000Genomes)
            HGVS:
            6.

            rs1491117969 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              20:63971826 (GRCh38)
              20:62603179 (GRCh37)
              Canonical SPDI:
              NC_000020.11:63971825:AT:
              Gene:
              ZNF512B (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.000084/1 (ALFA)
              -=0.000017/2 (GnomAD)
              HGVS:
              7.

              rs1491022142 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                20:63970940 (GRCh38)
                20:62602293 (GRCh37)
                Canonical SPDI:
                NC_000020.11:63970939:TT:
                Gene:
                ZNF512B (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1490984427 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:63968789 (GRCh38)
                  20:62600142 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:63968788:C:T
                  Gene:
                  ZNF512B (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  10.

                  rs1490799739 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:63965411 (GRCh38)
                    20:62596764 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:63965410:G:A
                    Gene:
                    ZNF512B (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.02745/79 (KOREAN)
                    HGVS:
                    11.

                    rs1490529524 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      20:63969340 (GRCh38)
                      20:62600693 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:63969339:C:G
                      Gene:
                      ZNF512B (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      ...more
                      HGVS:
                      12.

                      rs1490387370 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:63961755 (GRCh38)
                        20:62593108 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:63961754:G:A
                        Gene:
                        ZNF512B (Varview)
                        Functional Consequence:
                        genic_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)
                        ...more
                        HGVS:
                        13.

                        rs1489844288 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          20:63969251 (GRCh38)
                          20:62600604 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:63969250:G:T
                          Gene:
                          ZNF512B (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000043/6 (GnomAD)
                          T=0.000064/17 (TOPMED)
                          ...more
                          HGVS:
                          14.

                          rs1489821272 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            20:63956993 (GRCh38)
                            20:62588346 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:63956992:A:C
                            Gene:
                            UCKL1 (Varview), ZNF512B (Varview), UCKL1-AS1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000019/5 (TOPMED)
                            C=0.000029/4 (GnomAD)
                            ...more
                            HGVS:
                            15.

                            rs1489744767 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              20:63956436 (GRCh38)
                              20:62587789 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:63956435:G:A,NC_000020.11:63956435:G:C,NC_000020.11:63956435:G:T
                              Gene:
                              UCKL1 (Varview), ZNF512B (Varview), UCKL1-AS1 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              T=0.000035/1 (TOMMO)
                              ...more
                              HGVS:
                              16.

                              rs1489518112 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                20:63970188 (GRCh38)
                                20:62601541 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:63970187:G:T
                                Gene:
                                ZNF512B (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1489499247 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  20:63968393 (GRCh38)
                                  20:62599746 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:63968392:GGGG:GGG
                                  Gene:
                                  ZNF512B (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGG=0.000071/1 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  ...more
                                  HGVS:
                                  18.

                                  rs1489302588 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTC>- [Show Flanks]
                                    Chromosome:
                                    20:63970803 (GRCh38)
                                    20:62602156 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:63970798:CTTCTTC:CTTC
                                    Gene:
                                    ZNF512B (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CTTC=0./0 (ALFA)
                                    HGVS:
                                    19.

                                    rs1489204305 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      20:63969658 (GRCh38)
                                      20:62601011 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:63969657:G:A
                                      Gene:
                                      ZNF512B (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000122/2 (ALFA)
                                      A=0.00012/16 (GnomAD)
                                      G=0.5/1 (SGDP_PRJ)
                                      ...more
                                      HGVS:
                                      20.

                                      rs1489154031 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        20:63968311 (GRCh38)
                                        20:62599664 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:63968310:A:G
                                        Gene:
                                        ZNF512B (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.00046/8 (TOMMO)
                                        G=0.00171/5 (KOREAN)
                                        HGVS:

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