Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
---|---|---|---|---|---|---|---|---|---|
CYP2A6 | 122720 | TEGAFUR, POOR METABOLISM OF CYP2A6*11 | CYP2A6, SER224PRO | rs111033610 | 19 | 40847036 | A | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;CLIN_pathogenic;MA=G;MAF=0.00137741;MAC=3 |