Level 1A & 1B Clinical Annotations

Level 1A and 1B clinical annotations meet the highest levels of criteria and are manually curated by PharmGKB. Level 1A annotations contain a variant-drug combination in a CPIC or medical society endorsed PGx guideline, or, implemented at a PGRN site, or, in another major health system. Level 1B annotations contain a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and, preferably with a strong effect size.

See a list of all clinical annotations, including those with lower levels of evidence.

Download a list of all clinical variants . This file contains a list of variant-drug pairs and the level of evidence for each association. Please read the strength of evidence documentation for a complete description of the different levels of criteria. Detailed descriptions of the associations, including supporting PMIDs, are not available for automatic download and requests should be sent to feedback.

Clinical Annotation for rs67376798
Clinical Annotation for rs3918290
Clinical Annotation for rs55886062
Clinical Annotation for rs887829
Related To: atazanavir UGT1A1
Clinical Annotation for rs8175347
Clinical Annotation for rs2228001
Related To: cisplatin XPC
Clinical Annotation for rs121434568
Related To: gefitinib EGFR
Clinical Annotation for rs121434568
Related To: erlotinib EGFR
Clinical Annotation for rs776746
Related To: tacrolimus CYP3A5
Clinical Annotation for rs78655421
Related To: ivacaftor CFTR
Clinical Annotation for rs80282562
Related To: ivacaftor CFTR
Clinical Annotation for rs113993960
Clinical Annotation for rs121908757
Related To: ivacaftor CFTR
Clinical Annotation for rs121908755
Related To: ivacaftor CFTR
Clinical Annotation for rs121909005
Related To: ivacaftor CFTR
Clinical Annotation for rs121909013
Related To: ivacaftor CFTR
Clinical Annotation for rs75527207
Related To: ivacaftor CFTR
Clinical Annotation for rs267606723
Related To: ivacaftor CFTR
Clinical Annotation for rs74503330
Related To: ivacaftor CFTR
Clinical Annotation for rs121909041
Related To: ivacaftor CFTR
Clinical Annotation for rs193922525
Related To: ivacaftor CFTR
Clinical Annotation for rs113993960
Related To: ivacaftor CFTR
Clinical Annotation for rs4244285
Related To: amitriptyline CYP2C19
Clinical Annotation for rs12248560
Related To: clopidogrel CYP2C19
Clinical Annotation for rs28399504
Related To: clopidogrel CYP2C19
Clinical Annotation for rs4986893
Related To: clopidogrel CYP2C19
Clinical Annotation for rs4244285
Related To: clopidogrel CYP2C19
Clinical Annotation for rs1799853
Related To: warfarin CYP2C9
Clinical Annotation for rs1057910
Related To: warfarin CYP2C9
Clinical Annotation for rs1800497
Related To: bupropion ANKK1
Clinical Annotation for rs4149056
Related To: simvastatin SLCO1B1
Clinical Annotation for rs116855232
Clinical Annotation for rs9923231
Clinical Annotation for rs7294
Related To: warfarin VKORC1
Clinical Annotation for rs9934438
Related To: warfarin VKORC1
Clinical Annotation for rs9923231
Related To: warfarin VKORC1
Clinical Annotation for rs2108622
Related To: warfarin CYP4F2
Clinical Annotation for rs12979860
Clinical Annotation for rs12979860
Clinical Annotation for rs8099917
Clinical Annotation for rs8099917
Clinical Annotation for rs3745274
Related To: efavirenz CYP2B6
Clinical Annotation for rs3892097
Clinical Annotation for rs267606617
Clinical Annotation for rs1050828
Clinical Annotation for *1, *17, *2, *3, *4
Clinical Annotation for *1, *2, *3
Related To: sertraline CYP2C19
Clinical Annotation for *1, *17, *2, *3
Related To: amitriptyline CYP2C19
Clinical Annotation for *1, *2, *3, *4, *5, *6, *8
Related To: clopidogrel CYP2C19
Clinical Annotation for *1, *17, *2, *3
Related To: voriconazole CYP2C19
Clinical Annotation for *1, *2, *3
Related To: warfarin CYP2C9
Clinical Annotation for *1, *2, *3
Related To: phenytoin CYP2C9
Clinical Annotation for *1, *10, *1xN, *2, *2xN, *3, *4, *5, *6
Related To: paroxetine CYP2D6
Clinical Annotation for *1, *10, *3, *4, *5, *6
Related To: fluvoxamine CYP2D6
Clinical Annotation for *1, *1xN
Related To: ondansetron CYP2D6
Clinical Annotation for *1, *10, *1xN, *2, *2xN, *3, *4, *5, *6
Related To: tramadol CYP2D6
Clinical Annotation for *1, *10, *1xN, *2, *2xN, *3, *4, *41, *5, *6
Related To: amitriptyline CYP2D6
Clinical Annotation for *1, *10, *1xN, *2, *2xN, *3, *4, *5, *6
Related To: nortriptyline CYP2D6
Clinical Annotation for *1, *10, *17, *1xN, *2, *2xN, *3, *4, *40, *41, *5, *6
Related To: codeine CYP2D6
Clinical Annotation for A- 202A_376G, B (wildtype), Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham
Related To: rasburicase G6PD
Clinical Annotation for *57:01:01
Related To: abacavir HLA-B
Clinical Annotation for *15:02:01
Related To: carbamazepine HLA-B
Clinical Annotation for *58:01
Related To: allopurinol HLA-B
Clinical Annotation for *15:02:01
Related To: phenytoin HLA-B
Clinical Annotation for *1, *2, *3A, *3B, *3C, *4