Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 94232 single nucleotide variant NM_018051.4(WDR60):c.1891C>T (p.Gln631Ter) 587777064 MedGen:C3809691,OMIM:615503 7 158711530 158711530 C T 94232 single nucleotide variant NM_018051.4(WDR60):c.1891C>T (p.Gln631Ter) 587777064 MedGen:C3809691,OMIM:615503 7 158918839 158918839 C T 94233 single nucleotide variant NM_018051.4(WDR60):c.2246C>T (p.Thr749Met) 587777065 MedGen:C3809691,OMIM:615503 7 158716413 158716413 C T 94233 single nucleotide variant NM_018051.4(WDR60):c.2246C>T (p.Thr749Met) 587777065 MedGen:C3809691,OMIM:615503 7 158923722 158923722 C T 94234 single nucleotide variant NM_018051.4(WDR60):c.1703-3T>A 587777066 MedGen:C3809691,OMIM:615503 7 158706921 158706921 T A 94234 single nucleotide variant NM_018051.4(WDR60):c.1703-3T>A 587777066 MedGen:C3809691,OMIM:615503 7 158914230 158914230 T A 361511 single nucleotide variant NM_018051.4(WDR60):c.1721C>T (p.Thr574Ile) 374402136 MedGen:CN221809 7 158914251 158914251 C T 361511 single nucleotide variant NM_018051.4(WDR60):c.1721C>T (p.Thr574Ile) 374402136 MedGen:CN221809 7 158706942 158706942 C T 361512 single nucleotide variant NM_018051.4(WDR60):c.1777C>T (p.Arg593Trp) 776300442 MedGen:CN221809 7 158914307 158914307 C T 361512 single nucleotide variant NM_018051.4(WDR60):c.1777C>T (p.Arg593Trp) 776300442 MedGen:CN221809 7 158706998 158706998 C T 361513 single nucleotide variant NM_018051.4(WDR60):c.2155G>T (p.Gly719Cys) 200093028 MedGen:CN221809 7 158923631 158923631 G T 361513 single nucleotide variant NM_018051.4(WDR60):c.2155G>T (p.Gly719Cys) 200093028 MedGen:CN221809 7 158716322 158716322 G T

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 7 158665987 rs10282118 C T rs10282118 4.54E-05 Weight HPOID:0004323 DOID:9970 T intron GWASdb_trait 7 158692050 rs6459911 T C rs6459911 2.85E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 7 158714238 rs6943562 C T rs6943562 1.90E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 7 158717184 rs10281870 A G rs10281870 2.30E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 7 158724789 rs2730245 G C rs2730245 3.00E-07 Height HPOID:0000002 NA C intron GWASdb_trait 7 158738849 rs2527202 T C rs2527202 1.66E-04 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 T,C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000126870.15 WDR60 615462