Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 28943 single nucleotide variant NM_002392.5(MDM2):c.14+309T>G 2279744 MedGen:C3280690,OMIM:614401 12 69202580 69202580 T G 28943 single nucleotide variant NM_002392.5(MDM2):c.14+309T>G 2279744 MedGen:C3280690,OMIM:614401 12 68808800 68808800 T G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000135679.22 MDM2 164785