Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
---|---|---|---|---|---|---|---|---|---|
CYP2C19 | 124020 | MEPHENYTOIN, POOR METABOLISM OF | CYP2C19, MET1VAL (rs28399504) | rs28399504 | 10 | 94762706 | A | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Hapmap;E_1000G;E_Cited;E_ESP;CLIN_drug_response;MA=G;MAF=0.00137741;MAC=3;AA=A |
CYP2C19 | 124020 | MEPHENYTOIN, POOR METABOLISM OF | CYP2C19, ARG433TRP | rs56337013 | 10 | 94852738 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C |