Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 40295 single nucleotide variant NM_001163809.1(WDR81):c.2567C>T (p.Pro856Leu) 587776906 Gene:780925,MedGen:C2750234,OMIM:610185 17 1630820 1630820 C T 40295 single nucleotide variant NM_001163809.1(WDR81):c.2567C>T (p.Pro856Leu) 587776906 Gene:780925,MedGen:C2750234,OMIM:610185 17 1727526 1727526 C T 136179 single nucleotide variant NM_001163809.1(WDR81):c.1716C>T (p.His572=) 80035274 MedGen:CN169374 17 1629969 1629969 C T 136179 single nucleotide variant NM_001163809.1(WDR81):c.1716C>T (p.His572=) 80035274 MedGen:CN169374 17 1726675 1726675 C T 136180 single nucleotide variant NM_001163809.1(WDR81):c.1955C>T (p.Pro652Leu) 57207396 MedGen:CN169374 17 1630208 1630208 C T 136180 single nucleotide variant NM_001163809.1(WDR81):c.1955C>T (p.Pro652Leu) 57207396 MedGen:CN169374 17 1726914 1726914 C T 136181 single nucleotide variant NM_001163809.1(WDR81):c.2142T>C (p.Gly714=) 59643265 MedGen:CN169374 17 1630395 1630395 T C 136181 single nucleotide variant NM_001163809.1(WDR81):c.2142T>C (p.Gly714=) 59643265 MedGen:CN169374 17 1727101 1727101 T C 136182 single nucleotide variant NM_001163809.1(WDR81):c.2331A>G (p.Leu777=) 7221974 MedGen:CN169374 17 1630584 1630584 A G 136182 single nucleotide variant NM_001163809.1(WDR81):c.2331A>G (p.Leu777=) 7221974 MedGen:CN169374 17 1727290 1727290 A G 136183 single nucleotide variant NM_001163809.1(WDR81):c.2739G>A (p.Leu913=) 9912287 MedGen:CN169374 17 1630992 1630992 G A 136183 single nucleotide variant NM_001163809.1(WDR81):c.2739G>A (p.Leu913=) 9912287 MedGen:CN169374 17 1727698 1727698 G A 136184 single nucleotide variant NM_001163809.1(WDR81):c.3831C>T (p.Ala1277=) 12150338 MedGen:CN169374 17 1634104 1634104 C T 136184 single nucleotide variant NM_001163809.1(WDR81):c.3831C>T (p.Ala1277=) 12150338 MedGen:CN169374 17 1730810 1730810 C T 136185 single nucleotide variant NM_001163809.1(WDR81):c.4603A>G (p.Met1535Val) 3809870 MedGen:CN169374 17 1636934 1636934 A G 136185 single nucleotide variant NM_001163809.1(WDR81):c.4603A>G (p.Met1535Val) 3809870 MedGen:CN169374 17 1733640 1733640 A G 136186 single nucleotide variant NM_001163809.1(WDR81):c.4743A>G (p.Pro1581=) 3809871 MedGen:CN169374 17 1637074 1637074 A G 136186 single nucleotide variant NM_001163809.1(WDR81):c.4743A>G (p.Pro1581=) 3809871 MedGen:CN169374 17 1733780 1733780 A G 136187 single nucleotide variant NM_001163809.1(WDR81):c.4971A>G (p.Leu1657=) 3809872 MedGen:CN169374 17 1637302 1637302 A G 136187 single nucleotide variant NM_001163809.1(WDR81):c.4971A>G (p.Leu1657=) 3809872 MedGen:CN169374 17 1734008 1734008 A G 136188 single nucleotide variant NM_001163809.1(WDR81):c.5127G>A (p.Pro1709=) 8065251 MedGen:CN169374 17 1637458 1637458 G A 136188 single nucleotide variant NM_001163809.1(WDR81):c.5127G>A (p.Pro1709=) 8065251 MedGen:CN169374 17 1734164 1734164 G A 136189 single nucleotide variant NM_001163809.1(WDR81):c.5343C>T (p.Gly1781=) 117522064 MedGen:CN169374 17 1639350 1639350 C T 136189 single nucleotide variant NM_001163809.1(WDR81):c.5343C>T (p.Gly1781=) 117522064 MedGen:CN169374 17 1736056 1736056 C T 136190 single nucleotide variant NM_001163809.1(WDR81):c.5451A>G (p.Thr1817=) 11549259 MedGen:CN169374 17 1639458 1639458 A G 136190 single nucleotide variant NM_001163809.1(WDR81):c.5451A>G (p.Thr1817=) 11549259 MedGen:CN169374 17 1736164 1736164 A G 136191 single nucleotide variant NM_001163809.1(WDR81):c.5556C>T (p.Thr1852=) 1045794 MedGen:CN169374 17 1640709 1640709 C T 136191 single nucleotide variant NM_001163809.1(WDR81):c.5556C>T (p.Thr1852=) 1045794 MedGen:CN169374 17 1737415 1737415 C T 136192 single nucleotide variant NM_001163809.1(WDR81):c.5640C>T (p.Ser1880=) 8077638 MedGen:CN169374 17 1640793 1640793 C T 136192 single nucleotide variant NM_001163809.1(WDR81):c.5640C>T (p.Ser1880=) 8077638 MedGen:CN169374 17 1737499 1737499 C T 181450 single nucleotide variant NM_001163809.1(WDR81):c.845G>A (p.Gly282Glu) 730882206 Human Phenotype Ontology:HP:0002324,MedGen:CN002111;Human Phenotype Ontology:HP:0003811,MedGen:C0410916;MedGen:CN228280;MedGen:CN228281;MedGen:CN221809 17 1725804 1725804 G A 181450 single nucleotide variant NM_001163809.1(WDR81):c.845G>A (p.Gly282Glu) 730882206 Human Phenotype Ontology:HP:0002324,MedGen:CN002111;Human Phenotype Ontology:HP:0003811,MedGen:C0410916;MedGen:CN228280;MedGen:CN228281;MedGen:CN221809 17 1629098 1629098 G A 189094 single nucleotide variant NM_001163809.1(WDR81):c.3286C>T (p.Gln1096Ter) 770279237 MedGen:CN221809 17 1631539 1631539 C T 189094 single nucleotide variant NM_001163809.1(WDR81):c.3286C>T (p.Gln1096Ter) 770279237 MedGen:CN221809 17 1728245 1728245 C T 226676 single nucleotide variant NM_001163673.1(WDR81):c.388C>T (p.Arg130Ter) 138358708 Gene:780925,MedGen:C2750234,OMIM:610185 17 1634392 1634392 C T 226676 single nucleotide variant NM_001163673.1(WDR81):c.388C>T (p.Arg130Ter) 138358708 Gene:780925,MedGen:C2750234,OMIM:610185 17 1731098 1731098 C T 237371 single nucleotide variant NM_001163809.1(WDR81):c.3532G>A (p.Ala1178Thr) 151330612 MedGen:CN221809 17 1631785 1631785 G A 237371 single nucleotide variant NM_001163809.1(WDR81):c.3532G>A (p.Ala1178Thr) 151330612 MedGen:CN221809 17 1728491 1728491 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 17 1630992 rs9912287 G A rs9912287 3.70E-06 CALCIUM RECEPTORS, CALCIUM-SENSING Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 G cds-synon GWASdb_drug 17 1634104 rs12150338 C T rs12150338 7.00E-07 CALCIUM RECEPTORS, CALCIUM-SENSING Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 C cds-synon GWASdb_drug 17 1634104 rs12150338 C T rs12150338 2.00E-06 CALCIUM NA Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 C cds-synon GWASdb_drug 17 1637458 rs8065251 G A rs8065251 3.30E-06 CALCIUM RECEPTORS, CALCIUM-SENSING Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 G cds-synon GWASdb_drug 17 1640793 rs8077638 C T rs8077638 3.20E-06 CALCIUM RECEPTORS, CALCIUM-SENSING Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 C cds-synon GWASdb_drug 17 1641035 rs2287322 A G rs2287322 3.20E-06 CALCIUM RECEPTORS, CALCIUM-SENSING Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 G UTR-3 GWASdb_drug 17 1630584 rs7221974 A G rs7221974 1.28E-06 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 G cds-synon GWASdb_trait 17 1630992 rs9912287 G A rs9912287 3.70E-06 Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 G cds-synon GWASdb_trait 17 1634104 rs12150338 C T rs12150338 7.00E-07 Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 C cds-synon GWASdb_trait 17 1634104 rs12150338 C T rs12150338 2.00E-06 Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 C cds-synon GWASdb_trait 17 1637458 rs8065251 G A rs8065251 3.30E-06 Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 G cds-synon GWASdb_trait 17 1640793 rs8077638 C T rs8077638 3.20E-06 Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 C cds-synon GWASdb_trait 17 1641035 rs2287322 A G rs2287322 3.20E-06 Calcium levels HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:10575|DOID:1936 G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000167716.18 WDR81 614218