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Commit 7ae2c068 authored by simon verdez's avatar simon verdez
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add data test

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...@@ -50,4 +50,8 @@ https://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/NA12878/Nebraska_NA12878_HG001_ ...@@ -50,4 +50,8 @@ https://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/NA12878/Nebraska_NA12878_HG001_
### Execution ### Execution
bash -p <PharmGKB file> -b <bam file> -s <path to hlascan files> -v <vcf file> -o <output dir> bash -p <PharmGKB file> -b <bam file> -s <path to HLAscan files> -v <vcf file> -o <output dir>
#### Data test
bash -p data_test/PharmGKB_Epilepsy.tsv -b data_test/NA12878.5gene.bam -s <path to HLAscan files> -v data_test/NIST-hg001-7001-b-gatk.vcf -o data_test/
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data_test/NIST-hg001-7001-b-gatk.vcf 0 → 100644
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data_test/PharmGKB_Epilepsy.tsv 0 → 100644
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Clinical Annotation ID Variant/Haplotypes Gene Level of Evidence Level Override Level Modifiers Score Phenotype Category PMID Count Evidence Count Drug(s) Phenotype(s) Latest History Date (YYYY-MM-DD) URL Specialty Population
981419266 HLA-B*15:02:01 HLA-B 1A Tier 1 VIP 217.25 Toxicity 17 21 phenytoin drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981419266 Pediatric
1451245600 rs4244285 CYP2C19*2 3 Tier 1 VIP 8.5 Efficacy 1 3 clobazam Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1451245600
1451245620 rs4986893 CYP2C19*3 3 Tier 1 VIP 1.0 Dosage 1 1 clobazam Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1451245600
1451245620 rs4244285 CYP2C19*2 3 Tier 1 VIP 1.0 Dosage 1 1 clobazam Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1451245620
1451245620 rs4986893 CYP2C19*3 3 Tier 1 VIP 1.0 Dosage 1 1 clobazam Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1451245620
1451253880 rs1051740 EPHX1 3 5.75 Dosage 4 5 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1451253880
981237878 rs1105879 UGT1A6 3 5.0 Dosage 2 3 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981237878
981238092 rs2032582 ABCB1 3 Tier 1 VIP 2.0 Dosage;Efficacy 4 8 antiepileptics;carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981238092
1449156117 HLA-B*15:12 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156117
1183693390 HLA-B*13:01:01 HLA-B 3 Tier 1 VIP 3.0 Toxicity 3 4 phenytoin drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183693390
1183693395 HLA-B*58:01 HLA-B 3 Tier 1 VIP 2.5 Toxicity 1 1 antiepileptics Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183693395
1183698531 rs2304016 SCN2A 3 Rare Variant 3.75 Efficacy 2 3 antiepileptics;carbamazepine;lamotrigine;oxcarbazepine;phenytoin;topiramate Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183698531
982047500 rs1799853 CYP2C9*2 1A Tier 1 VIP 337.125 Metabolism/PK 19 52 phenytoin Epilepsy 2021-10-14 https://www.pharmgkb.org/clinicalAnnotation/982047500 Pediatric
982047500 rs1057910 CYP2C9*3 1A Tier 1 VIP 337.125 Metabolism/PK 19 52 phenytoin Epilepsy 2021-10-14 https://www.pharmgkb.org/clinicalAnnotation/982047500 Pediatric
1183682148 rs7668258 UGT2B7 3 2.75 Metabolism/PK 5 5 lamotrigine Epilepsy 2021-11-03 https://www.pharmgkb.org/clinicalAnnotation/1183682148 Pediatric
1183693378 HLA-B*40:01:01 HLA-B 2A Tier 1 VIP 9.75 Toxicity 5 5 carbamazepine Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183693378
1183701206 HLA-A*02:07:01 HLA-A 3 3.0 Toxicity 1 1 zonisamide Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183701206
1183701224 HLA-A*31:01:02 HLA-A 1A 142.875 Toxicity 16 28 carbamazepine Drug Hypersensitivity;drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Maculopapular Exanthema;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183701224 Pediatric
1043873028 rs12782374 CYP2C9 3 Tier 1 VIP 2.0 Dosage 1 3 phenytoin Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1043873028
981238550 rs1051740 EPHX1 3 4.75 Metabolism/PK 3 3 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981238550
981238501 rs1799853 CYP2C9*2 1A Tier 1 VIP 243.25 Toxicity 21 33 phenytoin Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981238501 Pediatric
981238501 rs1057910 CYP2C9*3 1A Tier 1 VIP 243.25 Toxicity 21 33 phenytoin Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981238501 Pediatric
981419260 HLA-B*58:01 HLA-B 1A Tier 1 VIP 181.375 Toxicity 38 41 allopurinol Drug Hypersensitivity;drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981419260 Pediatric
981419263 HLA-B*15:02:01 HLA-B 1A Tier 1 VIP 284.625 Toxicity 42 47 carbamazepine Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-05-04 https://www.pharmgkb.org/clinicalAnnotation/981419263 Pediatric
1183492030 rs2279020 GABRA1 3 4.5 Efficacy 1 2 carbamazepine;phenytoin;valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183492030
1183614624 rs3812718 SCN1A 3 4.75 Efficacy 5 5 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183614624
1183614578 rs17183814 SCN2A 4 -2.5 Efficacy 4 5 antiepileptics;carbamazepine;phenobarbital;phenytoin;valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183614578
1183614591 rs2298771 SCN1A 4 -2.5 Efficacy 3 5 carbamazepine;oxcarbazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183614591
1183533981 rs2290732 GABRA1 3 2.75 Efficacy 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1183533981
1449169484 rs7668258 UGT2B7 3 2.25 Metabolism/PK 3 4 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449169484 Pediatric
1449156112 HLA-B*15:01:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156112
1449155833 HLA-B*51:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155833
1449156127 HLA-B*15:25:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156127
1449155838 HLA-B*51:02:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155838
1449156144 HLA-B*15:27:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156144
1449155843 HLA-B*54:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155843
1449156149 HLA-B*15:32 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156149
1449155848 HLA-B*55:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155848
1449155853 HLA-B*55:02:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155853
1449155858 HLA-B*56:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155858
1449155863 HLA-B*56:06 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155863
1449156056 HLA-B*67:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156056
1449156061 HLA-B*78:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156061
1449156066 HLA-B*13:02:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156066
1449156071 HLA-B*38:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156071
1449156089 HLA-B*39:05:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156089
1449156094 HLA-B*39:06:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156094
1449156099 HLA-B*39:09 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156099
1449156107 HLA-B*57:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156107
1449156157 HLA-B*15:35 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156157
1449156162 HLA-B*52:01:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156162
1449156189 HLA-C*04:03 HLA-C 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156189
1449156194 HLA-C*04:06 HLA-C 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156194
1449156199 HLA-C*04:07 HLA-C 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156199
1449156204 HLA-C*05:01:01:01 HLA-C 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156204
1449156209 HLA-C*05:09:01 HLA-C 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156209
1449156214 HLA-C*18:01 HLA-C 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156214
1449156231 HLA-DRB1*01:03 HLA-DRB1 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156231
1449156236 HLA-DRB1*04:04:01 HLA-DRB1 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156236
1449156241 HLA-DRB1*08:01:01 HLA-DRB1 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156241
1449156249 HLA-DRB1*10:01:01 HLA-DRB1 3 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156249
655385814 rs2273697 ABCC2 4 -6.25 Toxicity 8 10 antiepileptics;carbamazepine;oxcarbazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/655385814 Pediatric
613977037 rs2227956 HSPA1L 3 2.25 Toxicity 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/613977037
613976757 rs2234922 EPHX1 3 4.25 Dosage 6 7 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/613976757
613978937 rs3812718 SCN1A 3 2.25 Dosage 2 2 phenytoin Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/613978937
1449713004 HLA-A*11:01:01 HLA-A 3 3.25 Toxicity 1 1 levetiracetam adverse events;Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449713004
1451415425 rs7668258 UGT2B7 3 2.75 Dosage 1 1 lamotrigine Epilepsy 2021-04-20 https://www.pharmgkb.org/clinicalAnnotation/1451415425
981188353 rs2070959 UGT1A10;UGT1A6;UGT1A7;UGT1A8;UGT1A9 3 5.0 Dosage 2 3 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981188353
981201895 rs1045642 ABCB1 4 Tier 1 VIP -5.75 Efficacy 15 16 antiepileptics Epilepsies, Partial;Epilepsy;Epilepsy, Generalized 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981201895 Pediatric
981202261 rs3740066 ABCC2 4 -5.0 Efficacy 4 5 antiepileptics Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981202261
981203697 rs717620 ABCC2 4 -2.5 Efficacy 5 6 antiepileptics Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981203697
981204345 rs1045642 ABCB1 4 Tier 1 VIP -6.75 Efficacy 5 5 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981204345
981203641 rs6759892 UGT1A10;UGT1A6;UGT1A7;UGT1A8;UGT1A9 3 5.0 Dosage 2 3 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981203641
981204306 rs1045642 ABCB1 3 Tier 1 VIP 0.0 Efficacy 3 3 phenytoin Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981204306
981204137 rs2032582 ABCB1 4 Tier 1 VIP -3.75 Efficacy 4 4 antiepileptics Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/981204137 Pediatric
1451431120 HLA-B*15:21 HLA-B 3 Tier 1 VIP 3.75 Toxicity 4 4 carbamazepine Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-05-04 https://www.pharmgkb.org/clinicalAnnotation/1451431120
1449004220 rs28898617 UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9 3 Rare Variant 2.0 Metabolism/PK 1 1 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449004220 Pediatric
1449004567 rs1045642 ABCB1 3 Tier 1 VIP 4.0 Efficacy;Metabolism/PK 1 2 oxcarbazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449004567
1449004229 rs2298771 SCN1A 4 -4.0 Efficacy 4 5 carbamazepine;clobazam;ethosuximide;lamotrigine;levetiracetam;oxcarbazepine;valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449004229 Pediatric
1449169490 rs12233719 UGT2B7 3 Rare Variant 1.5 Metabolism/PK 1 2 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449169490 Pediatric
1449004548 rs7439366 UGT2B7 3 1.0 Efficacy 2 3 oxcarbazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449004548
1449156122 HLA-B*15:24 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156122
1449155828 HLA-B*39:10:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449155828
1449156084 HLA-B*39:01:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156084
1449156076 HLA-B*38:02:01 HLA-B 4 Tier 1 VIP -1.75 Toxicity 2 2 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156076
1184654139 HLA-C*03:02 HLA-C 2B 19.5 Toxicity 5 6 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184654139
1445401897 rs2242480 CYP3A4 3 Tier 1 VIP 1.5 Metabolism/PK 2 2 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1445401897
1444703250 rs2071197 HNF4A 4 -0.5 Metabolism/PK 2 4 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444703250
1447676595 HLA-B*15:02:01 HLA-B 3 Tier 1 VIP 4.0 Toxicity 7 8 lamotrigine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447676595
1444704921 rs3740066 ABCC2 3 1.5 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444704921
1445401439 rs1934969 CYP2C9 3 Tier 1 VIP 1.25 Metabolism/PK 1 1 phenytoin Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1445401439
1446906328 rs4688040 NR1I2 3 Rare Variant 1.25 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1446906328
1449156223 HLA-DRB1*01:02:01 HLA-DRB1 3 2.0 Toxicity 2 2 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156223
1451245600 rs4244285 CYP2C19*2 3 Tier 1 VIP 6.75 Metabolism/PK 8 8 clobazam Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444695339 Pediatric
1451245600 rs4986893 CYP2C19*3 3 Tier 1 VIP 6.75 Metabolism/PK 8 8 clobazam Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444695339 Pediatric
1444666386 rs28399499 CYP2B6 2A Tier 1 VIP 9.5 Toxicity 4 4 nevirapine Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444666386
1444667912 rs4880 SOD2 3 1.5 Toxicity 1 1 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444667912 Pediatric
1184764189 rs2844665 3 0.0 Toxicity 1 2 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184764189
1185000097 rs2273697 ABCC2 3 3.0 Toxicity 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1185000097
1184986623 rs2011425 UGT1A4 3 2.25 Metabolism/PK 5 5 lamotrigine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184986623 Pediatric
1444703243 rs2032582 ABCB1 4 Tier 1 VIP -4.0 Efficacy 3 5 carbamazepine;phenytoin;valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444703243
1444706709 HLA-C*01:02:01 HLA-C 2B 8.0 Toxicity 3 3 methazolamide Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444706709
1444702822 rs1045642 ABCB1 3 Tier 1 VIP 2.5 Efficacy 1 1 phenobarbital Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1444702822
1184764194 rs3094188 PSORS1C3 3 0.0 Toxicity 1 2 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184764194
1184764199 rs3130501 POU5F1 3 0.0 Toxicity 1 1 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184764199
1184764204 rs3130931 POU5F1 3 0.0 Toxicity 1 2 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184764204
1184997136 HLA-B*58:01 HLA-B 3 Tier 1 VIP 2.5 Toxicity 1 1 carbamazepine Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184997136
1184997207 HLA-B*59:01:01:01 HLA-B 2A Tier 1 VIP 8.75 Toxicity 6 6 methazolamide Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184997207
1184997120 HLA-B*56:02 HLA-B 3 Tier 1 VIP 3.0 Toxicity 3 3 phenytoin drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-05-07 https://www.pharmgkb.org/clinicalAnnotation/1184997120
1184764228 rs9469003 CYCSP5 3 0.0 Toxicity 1 2 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184764228
1184764213 rs3815087 PSORS1C1 4 -2.5 Toxicity 2 3 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184764213
1445401915 rs1045642 ABCB1 4 Tier 1 VIP -1.5 Dosage;Metabolism/PK 6 7 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1445401915
1184756890 HLA-DQB1*05:02:01 HLA-DQB1 3 2.5 Toxicity 1 1 allopurinol Epidermal Necrolysis, Toxic;severe cutaneous adverse reactions;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1184756890
1445401389 rs1137101 LEPR 3 2.5 Toxicity 1 1 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1445401389
1445401399 rs1800497 ANKK1 3 2.5 Toxicity 1 1 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1445401399
1445401880 rs776746 CYP3A5 3 Tier 1 VIP 5.5 Dosage;Metabolism/PK 4 6 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1445401880
1448525745 HLA-A*11:01:01 HLA-A 3 3.25 Toxicity 2 2 carbamazepine Drug Hypersensitivity;Epidermal Necrolysis, Toxic;erythema exudativum multiforme;Maculopapular Exanthema;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448525745
1448525750 HLA-B*38:01:01 HLA-B 3 Tier 1 VIP 3.75 Toxicity 1 1 lamotrigine Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448525750
1448525763 HLA-C*08:01 HLA-C 3 3.25 Toxicity 1 1 carbamazepine Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448525763
1448525768 HLA-C*08:01 HLA-C 3 6.0 Toxicity 2 2 phenytoin Epidermal Necrolysis, Toxic;Maculopapular Exanthema;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448525768
1447949171 HLA-B*15:13:01 HLA-B 3 Tier 1 VIP 3.75 Toxicity 1 1 phenytoin drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447949171
1447987045 rs3814055 NR1I2 3 1.0 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987045
1447987052 rs2461817 NR1I2 3 1.75 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987052
1447987059 rs7643645 NR1I2 3 1.25 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987059
1447987066 rs28365063 UGT2B7 3 1.5 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987066
1447987101 rs2740574 CYP3A4 3 Tier 1 VIP 1.25 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987101
1447987094 rs1128503 ABCB1 4 Tier 1 VIP -2.0 Metabolism/PK 4 4 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987094
1447963991 rs3789243 ABCB1 3 Tier 1 VIP 3.5 Efficacy 2 3 antiepileptics Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447963991
1447987080 rs4148740 ABCB1 3 Tier 1 VIP 1.0 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987080
1447987087 rs4148739 ABCB1 3 Tier 1 VIP 1.0 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447987087
1447983144 rs1800012 COL1A1 3 1.5 Toxicity 1 1 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447983144
1447983940 rs762551 CYP1A2 3 1.5 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447983940 Pediatric
1449169540 rs7439366 UGT2B7 4 -0.5 Metabolism/PK 2 3 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449169540 Pediatric
1447963979 rs1128503 ABCB1 4 Tier 1 VIP -6.5 Efficacy 7 7 antiepileptics Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447963979 Pediatric
1448266838 rs15524 CYP3A5 3 Tier 1 VIP 1.0 Metabolism/PK 1 2 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448266838
1448098947 rs4148386 ABCC2 3 1.0 Metabolism/PK 1 1 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448098947
1448264356 HLA-DRB1*04:03:01 HLA-DRB1 3 3.5 Toxicity 1 1 oxcarbazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448264356
1448263578 rs628031 SLC22A1 3 1.25 Metabolism/PK 2 2 lamotrigine Epilepsy 2021-04-20 https://www.pharmgkb.org/clinicalAnnotation/1448263578
1448100501 rs2071197 HNF4A 4 -0.5 Efficacy;Metabolism/PK 2 3 lamotrigine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448100501
1448100487 rs2231142 ABCG2 3 Tier 1 VIP 3.75 Metabolism/PK 4 5 lamotrigine Epilepsy 2021-04-20 https://www.pharmgkb.org/clinicalAnnotation/1448100487
1448100494 rs3114020 ABCG2 3 Tier 1 VIP 1.25 Metabolism/PK 2 2 lamotrigine Epilepsy 2021-04-20 https://www.pharmgkb.org/clinicalAnnotation/1448100494
1448612662 rs2741049 UGT1A10;UGT1A7;UGT1A8;UGT1A9 3 2.0 Efficacy 1 1 oxcarbazepine Epilepsy;Seizures 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448612662
1448100313 rs28365063 UGT2B7 4 -0.25 Metabolism/PK 3 3 lamotrigine Epilepsy 2021-04-20 https://www.pharmgkb.org/clinicalAnnotation/1448100313
1448264343 HLA-B*15:01:01:01 HLA-B 3 Tier 1 VIP 3.0 Toxicity 1 1 oxcarbazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448264343
1448264329 HLA-B*40:02:01 HLA-B 3 Tier 1 VIP 4.0 Toxicity 1 1 oxcarbazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448264329
1447960948 rs1019385 GRIN2B 3 5.0 Dosage 1 2 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447960948
1449156051 HLA-B*67:01:01 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156051
1449156167 HLA-B*35:10 HLA-B 3 Tier 1 VIP 0.0 Toxicity 1 1 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156167
1449156175 HLA-C*04:01:01:01 HLA-C 2B 17.0 Toxicity 8 9 nevirapine drug reaction with eosinophilia and systemic symptoms;Epidermal Necrolysis, Toxic;Exanthema;Hypersensitivity;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449156175
1448104015 rs2606345 CYP1A1 3 5.0 Efficacy 2 2 carbamazepine;phenobarbital;phenytoin;valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448104015
1451245600 rs4244285 CYP2C19*2 4 Tier 1 VIP -0.875 Toxicity 2 3 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448265356 Pediatric
1451245600 rs4986893 CYP2C19*3 4 Tier 1 VIP -0.875 Toxicity 2 3 valproic acid Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448265356 Pediatric
613978931 rs3812718 SCN1A 2B 15.25 Dosage 6 7 carbamazepine Epilepsy 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/613978931
1449566334 HLA-A*24:02:01:01 HLA-A 3 2.25 Toxicity 1 1 phenytoin Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449566334 Pediatric
1451120280 rs1801133 MTHFR 3 Tier 1 VIP 0.25 Toxicity 1 1 phenobarbital;phenytoin Epilepsy;Psychotic Disorders 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1451120280
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