Disease associated variation - ClinVar | Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate | 215423 | deletion | NM_004788.3(UBE4A):c.2433+3delA | 536863126 | MedGen:CN169374 | 11 | 118384948 | 118384948 | A | - | 215423 | deletion | NM_004788.3(UBE4A):c.2433+3delA | 536863126 | MedGen:CN169374 | 11 | 118255663 | 118255663 | 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 | 11 | 118237405 | rs11216858 | C | G | rs11216858 | 7.67E-04 | | | Type 2 diabetes | HPOID:0005978 | DOID:9352 | G | intron | GWASdb_trait | 11 | 118240332 | rs11216860 | T | C | rs11216860 | 5.86E-04 | | | Type 2 diabetes | HPOID:0005978 | DOID:9352 | T | intron | GWASdb_trait | 11 | 118241995 | rs502514 | T | C | rs502514 | 2.20E-06 | | | Subcutaneous adipose tissue volume in HIV-infected men | HPOID:0002721 | DOID:526 | T | intron | GWASdb_trait | |
Disease associated variation - OMIM | Ensembl_gene_ID | Approved Gene Symbol | MIM Number | ENSG00000110344.9 | UBE4A | 603753 | |