Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 187233 single nucleotide variant NM_014314.3(DDX58):c.1118A>C (p.Glu373Ala) 786204847 MedGen:CN229494,OMIM:616298 9 32488037 32488037 T G 187233 single nucleotide variant NM_014314.3(DDX58):c.1118A>C (p.Glu373Ala) 786204847 MedGen:CN229494,OMIM:616298 9 32488039 32488039 T G 187234 single nucleotide variant NM_014314.3(DDX58):c.803G>T (p.Cys268Phe) 786204848 MedGen:CN229494,OMIM:616298 9 32488882 32488882 C A 187234 single nucleotide variant NM_014314.3(DDX58):c.803G>T (p.Cys268Phe) 786204848 MedGen:CN229494,OMIM:616298 9 32488884 32488884 C 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 9 32456656 rs12555727 G A rs12555727 1.91E-05 Psoriasis HPOID:0003765 DOID:8893 G UTR-3 GWASdb_trait 9 32475686 rs10970997 A G rs10970997 4.94E-04 Smoking initiation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 9 32504316 rs7034650 A G rs7034650 7.21E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 9 32523737 rs11795343 T C rs11795343 8.40E-11 Psoriasis HPOID:0003765 DOID:8893 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000107201.9 DDX58 609631