Disease associated variation - ClinVar | Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate | 106843 | deletion | WDR48, 3-BP DEL, 1879AAG | -1 | MedGen:CN221809 | na | -1 | -1 | na | na | |
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 | 3 | 39118649 | rs144954527 | C | T | rs144954527 | 0.00087 | | | Prostate cancer | HPOID:0012125 | DOID:10283 | C | missense | GWASdb_trait | 3 | 39127685 | rs2370860 | T | C | rs2370860 | 8.96E-30 | | | Narcolepsy | HPOID:0100786 | DOID:8986 | T | intron | GWASdb_trait | |
Disease associated variation - OMIM | Ensembl_gene_ID | Approved Gene Symbol | MIM Number | ENSG00000114742.13 | WDR48 | 612167 | |