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