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Items: 1 to 20 of 1732

1.

rs1490167828 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:12672668 (GRCh38)
    19:12783482 (GRCh37)
    Canonical SPDI:
    NC_000019.10:12672667:G:A
    Gene:
    DHPS (Varview), WDR83 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490052682 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:12670538 (GRCh38)
      19:12781352 (GRCh37)
      Canonical SPDI:
      NC_000019.10:12670537:C:T
      Gene:
      WDR83OS (Varview), WDR83 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1488888887 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:12671614 (GRCh38)
        19:12782428 (GRCh37)
        Canonical SPDI:
        NC_000019.10:12671613:T:C
        Gene:
        WDR83 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1488662240 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:12671048 (GRCh38)
          19:12781862 (GRCh37)
          Canonical SPDI:
          NC_000019.10:12671047:C:T
          Gene:
          WDR83OS (Varview), WDR83 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1488623715 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CCT>- [Show Flanks]
            Chromosome:
            19:12671807 (GRCh38)
            19:12782621 (GRCh37)
            Canonical SPDI:
            NC_000019.10:12671804:CTCCT:CT
            Gene:
            WDR83 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CT=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488592306 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:12672702 (GRCh38)
              19:12783516 (GRCh37)
              Canonical SPDI:
              NC_000019.10:12672701:C:T
              Gene:
              DHPS (Varview), WDR83 (Varview)
              Functional Consequence:
              genic_downstream_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)
              T=0.000546/1 (Korea1K)
              HGVS:
              7.

              rs1488552420 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                19:12672091 (GRCh38)
                19:12782905 (GRCh37)
                Canonical SPDI:
                NC_000019.10:12672090:G:T
                Gene:
                DHPS (Varview), WDR83 (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1488347609 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAT>- [Show Flanks]
                  Chromosome:
                  19:12671041 (GRCh38)
                  19:12781855 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:12671031:AATAATAATAAT:AATAATAAT
                  Gene:
                  WDR83OS (Varview), WDR83 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AATAATAAT=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1487550763 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:12672551 (GRCh38)
                    19:12783365 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:12672550:T:C
                    Gene:
                    DHPS (Varview), WDR83 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.00062/1 (ALFA)
                    C=0.00002/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1487014732 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:12671508 (GRCh38)
                      19:12782322 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:12671507:C:T
                      Gene:
                      WDR83 (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:
                      11.

                      rs1486940560 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        19:12669410 (GRCh38)
                        19:12780224 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:12669409:T:C,NC_000019.10:12669409:T:G
                        Gene:
                        WDR83OS (Varview), WDR83 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1486878897 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          19:12670232 (GRCh38)
                          19:12781046 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:12670231:C:A,NC_000019.10:12670231:C:T
                          Gene:
                          WDR83OS (Varview), WDR83 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          T=0.000142/2 (TOMMO)
                          HGVS:
                          13.

                          rs1486685773 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:12671143 (GRCh38)
                            19:12781957 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:12671142:C:T
                            Gene:
                            WDR83OS (Varview), WDR83 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_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:
                            14.

                            rs1486598388 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              19:12669881 (GRCh38)
                              19:12780695 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:12669880:G:A,NC_000019.10:12669880:G:T
                              Gene:
                              WDR83OS (Varview), WDR83 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1486169430 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                19:12672659 (GRCh38)
                                19:12783473 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:12672658:G:A,NC_000019.10:12672658:G:C
                                Gene:
                                DHPS (Varview), WDR83 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1485915599 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  19:12670696 (GRCh38)
                                  19:12781510 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:12670695:C:A
                                  Gene:
                                  WDR83OS (Varview), WDR83 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1485323118 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:12669162 (GRCh38)
                                    19:12779976 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:12669161:C:T
                                    Gene:
                                    WDR83OS (Varview), WDR83 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484932321 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      19:12671281 (GRCh38)
                                      19:12782095 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:12671280:T:C
                                      Gene:
                                      WDR83OS (Varview), WDR83 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.00007/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1484215172 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GGGGTTTCGCCATGTTGGCC>- [Show Flanks]
                                        Chromosome:
                                        19:12671887 (GRCh38)
                                        19:12782701 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:12671885:CGGGGTTTCGCCATGTTGGCC:C
                                        Gene:
                                        WDR83 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        -=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484159476 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          19:12669779 (GRCh38)
                                          19:12780593 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:12669778:A:C,NC_000019.10:12669778:A:G
                                          Gene:
                                          WDR83OS (Varview), WDR83 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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