Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 137087 single nucleotide variant NM_015726.3(DCAF8):c.949C>T (p.Arg317Cys) 587777425 MedGen:C1864695,OMIM:610100 1 160206935 160206935 G A 137087 single nucleotide variant NM_015726.3(DCAF8):c.949C>T (p.Arg317Cys) 587777425 MedGen:C1864695,OMIM:610100 1 160237145 160237145 G A 359217 single nucleotide variant NM_015726.3(DCAF8):c.152C>T (p.Thr51Ile) 1057518253 MedGen:CN169374 1 160240268 160240268 G A 359217 single nucleotide variant NM_015726.3(DCAF8):c.152C>T (p.Thr51Ile) 1057518253 MedGen:CN169374 1 160210058 160210058 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 1 160189500 rs1061511 C A rs1061511 2.40E-04 Fibrinogen HPOID:0011898 DOID:1287 T intron GWASdb_trait 1 160193057 rs16831628 G A rs16831628 5.72E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 1 160224700 rs4596880 T A rs4596880 1.54E-04 Fibrinogen HPOID:0011898 DOID:1287 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000132716.18 DCAF8 615820