annotation_id
large_string
subject
large_string
rsid
large_string
gene
large_string
genotype
large_string
evidence_level
large_string
phenotype_category
large_string
drugs
large_string
phenotypes
large_string
annotation_text
large_string
url
large_string
981238288
rs2032582
rs2032582
ABCB1
CC
4
Efficacy
efavirenz
HIV infectious disease
Patients with the CC genotype may have increased likelihood of emerging viral drug resistance when exposed to efavirenz in people with HIV Infections as compared to patients with the AA genotype.This varaint is not associated with plasma exposure of efavirenz. Other genetic and clinical factors may also influence the r...
https://www.clinpgx.org/clinicalAnnotation/981238288
981238323
rs1695
rs1695
GSTP1
AA
3
Efficacy
cyclophosphamide
Neoplasms
Patients with the rs1695 AA genotype and Neoplasms may have increased response to cyclophosphamide as compared to patients with GG genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to cyclophosphamide.
https://www.clinpgx.org/clinicalAnnotation/981238323
981238323
rs1695
rs1695
GSTP1
AG
3
Efficacy
cyclophosphamide
Neoplasms
Patients with the rs1695 AG genotype and Neoplasms may have increased response to cyclophosphamide as compared to patients with GG genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to cyclophosphamide.
https://www.clinpgx.org/clinicalAnnotation/981238323
981238323
rs1695
rs1695
GSTP1
GG
3
Efficacy
cyclophosphamide
Neoplasms
Patients with the rs1695 GG genotype and Neoplasms may have decreased response to cyclophosphamide as compared to patients with AA or AG genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to cyclophosphamide.
https://www.clinpgx.org/clinicalAnnotation/981238323
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*1
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*1 allele is assigned as a normal function allele by CPIC. Patients carrying the CYP2C9*1 allele in combination with another normal function allele may require a higher dose of warfarin as compared to patients carrying at least one copy of a decreased or no function allele. Other genetic and clinical factors ...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*11
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*11 allele is assigned as a decreased function allele by CPIC. Patients carrying the CYP2C9*11 allele in combination with a normal, decreased, or no function allele may require a lower dose of warfarin as compared to patients with two normal function alleles. Other genetic and clinical factors may also influe...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*2
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*2 allele is assigned as a decreased function allele by CPIC. Patients carrying the CYP2C9*2 allele in combination with a normal, decreased, or no function allele may require a lower dose of warfarin as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Oth...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*3
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*3 allele is assigned as a no function allele by CPIC. Patients carrying the CYP2C9*3 allele in combination with a normal, decreased, or no function allele may require a lower dose of warfarin as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other gene...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*4
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*4 allele is assigned as a decreased function allele by CPIC. Patients carrying the CYP2C9*4 allele in combination with a normal, decreased, or no function allele may require a lower dose of warfarin as compared to patients with two normal function alleles. Other genetic and clinical factors may also influenc...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*5
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*5 allele is assigned as a decreased function allele by CPIC. Patients carrying the CYP2C9*5 allele in combination with a normal, decreased, or no function allele may require a lower dose of warfarin as compared to patients with two normal function alleles. Other genetic and clinical factors may also influenc...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*6
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*6 allele is assigned as a no function allele by CPIC. Patients carrying the CYP2C9*6 allele in combination with a normal, decreased, or no function allele may require a lower dose of warfarin as compared to patients with two normal function alleles. Other genetic and clinical factors may also influence warfa...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238341
CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11
null
CYP2C9
*8
1A
Dosage
warfarin
Cardiovascular Disease
The CYP2C9*8 allele is assigned as a decreased function allele by CPIC. Patients carrying the CYP2C9*8 allele in combination with a normal, decreased, or no function allele may require a lower dose of warfarin as compared to patients with two normal function alleles. Other genetic and clinical factors may also influenc...
https://www.clinpgx.org/clinicalAnnotation/981238341
981238370
rs1979277
rs1979277
SHMT1
AA
3
Toxicity
methotrexate
Acute lymphoblastic leukemia
Pediatric patients with the AA genotype and with Precursor Cell Lymphoblastic Leukemia-Lymphoma who are treated with methotrexate may have increased catalytic activity of TYMS as compared to pediatric patients with the AG and GG genotype. Patients with the AA genotype and with Precursor Cell Lymphoblastic Leukemia-Lymp...
https://www.clinpgx.org/clinicalAnnotation/981238370
981238370
rs1979277
rs1979277
SHMT1
AG
3
Toxicity
methotrexate
Acute lymphoblastic leukemia
Pediatric patients with the AG genotype and with Precursor Cell Lymphoblastic Leukemia-Lymphoma who are treated with methotrexate may have decreased catalytic activity of TYMS as compared to pediatric patients with the AA genotype. Patients with the AG genotype and with Precursor Cell Lymphoblastic Leukemia-Lymphoma wh...
https://www.clinpgx.org/clinicalAnnotation/981238370
981238370
rs1979277
rs1979277
SHMT1
GG
3
Toxicity
methotrexate
Acute lymphoblastic leukemia
Pediatric patients with the GG genotype and with Precursor Cell Lymphoblastic Leukemia-Lymphoma who are treated with methotrexate may have decreased catalytic activity of TYMS as compared to pediatric patients with the AA genotype. Patients with the GG genotype and with Precursor Cell Lymphoblastic Leukemia-Lymphoma wh...
https://www.clinpgx.org/clinicalAnnotation/981238370
981238397
rs1695
rs1695
GSTP1
AA
3
Toxicity
mercaptopurine;methotrexate
Acute lymphoblastic leukemia;Drug Toxicity
Patients with acute lymphoblastic leukemia (ALL) and the rs1695 AA genotype may be less likely to experience drug toxicity when treated with mercaptopurine and methotrexate as compared to patients with the GG genotype. Other genetic and clinical factors may also influence likelihood of drug toxicity when treated with m...
https://www.clinpgx.org/clinicalAnnotation/981238397
981238397
rs1695
rs1695
GSTP1
AG
3
Toxicity
mercaptopurine;methotrexate
Acute lymphoblastic leukemia;Drug Toxicity
Patients with acute lymphoblastic leukemia (ALL) and the rs1695 AG genotype may be less likely to experience drug toxicity when treated with mercaptopurine and methotrexate as compared to patients with the GG genotype. Other genetic and clinical factors may also influence likelihood of drug toxicity when treated with m...
https://www.clinpgx.org/clinicalAnnotation/981238397
981238397
rs1695
rs1695
GSTP1
GG
3
Toxicity
mercaptopurine;methotrexate
Acute lymphoblastic leukemia;Drug Toxicity
Patients with acute lymphoblastic leukemia (ALL) and the rs1695 GG genotype may be more likely to experience drug toxicity when treated with mercaptopurine and methotrexate as compared to patients with the AA or AG genotypes. Other genetic and clinical factors may also influence likelihood of drug toxicity when treated...
https://www.clinpgx.org/clinicalAnnotation/981238397
981238415
rs1127354
rs1127354
ITPA
AA
3
Efficacy;Toxicity
methotrexate
Acute lymphoblastic leukemia;Rheumatoid arthritis
Patients with the AA genotype and with Rheumatoid Arthritis who are treated with methotrexate may have 1) an increased risk for gastrointestinal toxicities 2) a decreased response to folic acid and methotrexate as compared to patients with the CC genotype. However, this association is contradicted in other studies that...
https://www.clinpgx.org/clinicalAnnotation/981238415
981238415
rs1127354
rs1127354
ITPA
AC
3
Efficacy;Toxicity
methotrexate
Acute lymphoblastic leukemia;Rheumatoid arthritis
Patients with the AC genotype and with Rheumatoid Arthritis who are treated with methotrexate may have 1) an increased risk for gastrointestinal toxicities 2) a decreased response to folic acid and methotrexate as compared to patients with the CC genotype. However, this association is contradicted in other studies that...
https://www.clinpgx.org/clinicalAnnotation/981238415
981238415
rs1127354
rs1127354
ITPA
CC
3
Efficacy;Toxicity
methotrexate
Acute lymphoblastic leukemia;Rheumatoid arthritis
Patients with the CC genotype and with Rheumatoid Arthritis who are treated with methotrexate may have 1) a decreased, but not absent, risk for gastrointestinal toxicities 2) an increased response to folic acid and methotrexate as compared to patients with the AA and AC genotype. However, this association is contradict...
https://www.clinpgx.org/clinicalAnnotation/981238415
981238437
rs1057910
rs1057910
CYP2C9
AA
3
Toxicity
Antiinflammatory agents, non-steroids;celecoxib;diclofenac
null
Patients with the AA genotype who are treated with non-steroid antiinflammatory agents, celecoxib or diclofenac may have a decreased, but not absent, risk of gastrointestinal bleeding as compared to patients with the AC and CC genotype. This drug-variant pair has been assigned a “no recommendation” by CPIC, as it was d...
https://www.clinpgx.org/clinicalAnnotation/981238437
981238437
rs1057910
rs1057910
CYP2C9
AC
3
Toxicity
Antiinflammatory agents, non-steroids;celecoxib;diclofenac
null
Patients with the AC genotype who are treated with non-steroids antiinflammatory agents, celecoxib or diclofenac may have an increased risk of gastrointestinal bleeding as compared to patients with the AA genotype. This drug-variant pair has been assigned a “no recommendation” by CPIC, as it was determined to be not cl...
https://www.clinpgx.org/clinicalAnnotation/981238437
981238437
rs1057910
rs1057910
CYP2C9
CC
3
Toxicity
Antiinflammatory agents, non-steroids;celecoxib;diclofenac
null
Patients with the CC genotype who are treated with non-steroids antiinflammatory agents, celecoxib or diclofenac may have an increased risk of gastrointestinal bleeding as compared to patients with the AA genotype. This drug-variant pair has been assigned a “no recommendation” by CPIC, as it was determined to be not cl...
https://www.clinpgx.org/clinicalAnnotation/981238437
981238459
rs1057910
rs1057910
CYP2C9
AA
3
Efficacy
losartan
null
Subjects with the AA genotype who are treated with losartan may have increased metabolism of losartan as compared to subjects with the CA and CC genotype. Other genetic and clinical factors may also influence metabolism of losartan.
https://www.clinpgx.org/clinicalAnnotation/981238459
981238459
rs1057910
rs1057910
CYP2C9
AC
3
Efficacy
losartan
null
Subjects with the AC genotype who are treated with losartan may have decreased metabolism of losartan as compared to subjects with the AA genotype. Other genetic and clinical factors may also influence metabolism of losartan.
https://www.clinpgx.org/clinicalAnnotation/981238459
981238459
rs1057910
rs1057910
CYP2C9
CC
3
Efficacy
losartan
null
Subjects with the CC genotype who are treated with losartan may have decreased metabolism of losartan as compared to subjects with the AA genotype. Other genetic and clinical factors may also influence metabolism of losartan.
https://www.clinpgx.org/clinicalAnnotation/981238459
981238501
CYP2C9*1, CYP2C9*2, CYP2C9*3
null
CYP2C9
*1
1A
Toxicity
phenytoin
Epilepsy
The CYP2C9*1 allele is assigned as a normal function allele by CPIC. Patients carrying the CYP2C9*1 allele in combination with another normal function allele may have a decreased, but not absent, risk of drug toxicity when treated with phenytoin as compared to patients with a no function allele in combination with a no...
https://www.clinpgx.org/clinicalAnnotation/981238501
981238501
CYP2C9*1, CYP2C9*2, CYP2C9*3
null
CYP2C9
*2
1A
Toxicity
phenytoin
Epilepsy
The CYP2C9*2 allele is assigned as a decreased function allele by CPIC. Patients carrying the *2 in combination with a normal function allele may have a may have a similar risk of drug toxicity when treated with phenytoin as compared to patients carrying two normal function alleles, while patients carrying the *2 allel...
https://www.clinpgx.org/clinicalAnnotation/981238501
981238501
CYP2C9*1, CYP2C9*2, CYP2C9*3
null
CYP2C9
*3
1A
Toxicity
phenytoin
Epilepsy
The CYP2C9*3 allele is assigned as a no function allele by CPIC. Patients carrying the CYP2C9*3 allele in combination with a normal, decreased or no function allele may have an increased risk of drug toxicity when treated when phenytoin as compared to patients with two normal function alleles. However, conflicting evid...
https://www.clinpgx.org/clinicalAnnotation/981238501
981238550
rs1051740
rs1051740
EPHX1
CC
3
Metabolism/PK
carbamazepine
Epilepsy
Patients with the CC genotype and Epilepsy may have increased metabolism of carbamazepine as compared to patients with the the CT or TT genotypes. This annotation only covers the pharmacokinetic relationship between rs1051740 and carbamazepine and does not include evidence about clinical outcomes. Other genetic and cli...
https://www.clinpgx.org/clinicalAnnotation/981238550
981238550
rs1051740
rs1051740
EPHX1
CT
3
Metabolism/PK
carbamazepine
Epilepsy
Patients with the CT genotype and Epilepsy may have decreased metabolism of carbamazepine as compared to patients with the the CC genotype, or an increased metabolism as compared to patients with the the TT genotype. This annotation only covers the pharmacokinetic relationship between rs1051740 and carbamazepine and do...
https://www.clinpgx.org/clinicalAnnotation/981238550
981238550
rs1051740
rs1051740
EPHX1
TT
3
Metabolism/PK
carbamazepine
Epilepsy
Patients with the TT genotype and Epilepsy may have decreased metabolism of carbamazepine as compared to patients with the the CC or CT genotypes. This annotation only covers the pharmacokinetic relationship between rs1051740 and carbamazepine and does not include evidence about clinical outcomes. Other genetic and cli...
https://www.clinpgx.org/clinicalAnnotation/981238550
981238562
rs1051266
rs1051266
SLC19A1
CC
4
Metabolism/PK
methotrexate
Acute lymphoblastic leukemia;Burkitt Lymphoma;Leukemia;Lymphoma, T-Cell;Neoplasms;Osteosarcoma
The current evidence base suggests that there is no significant association between the rs1051266 CC genotype and methotrexate concentrations in patients with neoplasms. However, conflicting evidence has been reported. This annotation only covers the pharmacokinetic relationship between rs1051266 and methotrexate and d...
https://www.clinpgx.org/clinicalAnnotation/981238562
981238562
rs1051266
rs1051266
SLC19A1
CT
4
Metabolism/PK
methotrexate
Acute lymphoblastic leukemia;Burkitt Lymphoma;Leukemia;Lymphoma, T-Cell;Neoplasms;Osteosarcoma
The current evidence base suggests that there is no significant association between the rs1051266 CT genotype and methotrexate concentrations in patients with neoplasms. However, conflicting evidence has been reported. This annotation only covers the pharmacokinetic relationship between rs1051266 and methotrexate and d...
https://www.clinpgx.org/clinicalAnnotation/981238562
981238562
rs1051266
rs1051266
SLC19A1
TT
4
Metabolism/PK
methotrexate
Acute lymphoblastic leukemia;Burkitt Lymphoma;Leukemia;Lymphoma, T-Cell;Neoplasms;Osteosarcoma
The current evidence base suggests that there is no significant association between the rs1051266 TT genotype and methotrexate concentrations in patients with neoplasms. However, conflicting evidence has been reported. This annotation only covers the pharmacokinetic relationship between rs1051266 and methotrexate and d...
https://www.clinpgx.org/clinicalAnnotation/981238562
981238570
rs1050828
rs1050828
G6PD;IKBKG
CC
3
Toxicity
artesunate;primaquine;pyrimethamine;sulfadoxine
null
Pediatric patients with the CC genotype may have decreased, but not absent, risk of moderate anemia when treated with artesunate, primaquine, pyrimethamine and sulfadoxine as compared to pediatric patients with the CT and TT genotype. Other genetic and clinical factors may also influence a patients risk of toxicity to ...
https://www.clinpgx.org/clinicalAnnotation/981238570
981238570
rs1050828
rs1050828
G6PD;IKBKG
CT
3
Toxicity
artesunate;primaquine;pyrimethamine;sulfadoxine
null
Pediatric patients with the CT genotype may have an increased risk of moderate anemia when treated with artesunate, primaquine, pyrimethamine and sulfadoxine as compared to pediatric patients with the CC genotype. Other genetic and clinical factors may also influence a patients risk of toxicity to artesunate, primaquin...
https://www.clinpgx.org/clinicalAnnotation/981238570
981238570
rs1050828
rs1050828
G6PD;IKBKG
TT
3
Toxicity
artesunate;primaquine;pyrimethamine;sulfadoxine
null
Pediatric patients with the TT genotype may have an increased risk of moderate anemia when treated with artesunate, primaquine, pyrimethamine and sulfadoxine as compared to pediatric patients with the CC genotype. Other genetic and clinical factors may also influence a patients risk of toxicity to artesunate, primaquin...
https://www.clinpgx.org/clinicalAnnotation/981238570
981238910
rs5219
rs5219
KCNJ11
CC
3
Efficacy
metformin;sulfonamides, urea derivatives
Diabetes Mellitus, Type 2
Patients with the CC genotype and Type 2 Diabetes who are treated with metformin and sulfonamides, urea derivatives may have a decreased likelihood of treatment failure as compared to patients with the TT genotype. This association with response was not seen in a separate study in patients treated with sulfonamides, ur...
https://www.clinpgx.org/clinicalAnnotation/981238910
981238910
rs5219
rs5219
KCNJ11
CT
3
Efficacy
metformin;sulfonamides, urea derivatives
Diabetes Mellitus, Type 2
Patients with the CT genotype and Type 2 Diabetes who are treated with metformin and sulfonamides, urea derivatives may have a decreased likelihood of treatment failure as compared to patients with the TT genotype or may have an increased likelihood of treatment failure as compared to patients with the CC genotype. Thi...
https://www.clinpgx.org/clinicalAnnotation/981238910
981238910
rs5219
rs5219
KCNJ11
TT
3
Efficacy
metformin;sulfonamides, urea derivatives
Diabetes Mellitus, Type 2
Patients with the TT genotype and Type 2 Diabetes who are treated with metformin and sulfonamides, urea derivatives may have an increased likelihood of treatment failure as compared to patients with the CC genotype. This association with response was not seen in a separate study in patients treated with sulfonamides, u...
https://www.clinpgx.org/clinicalAnnotation/981238910
981239532
rs104894539
rs104894539
VKORC1
AA
3
Dosage
warfarin
null
Patients with the AA genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239532
981239532
rs104894539
rs104894539
VKORC1
AC
3
Dosage
warfarin
null
Patients with the AC genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239532
981239532
rs104894539
rs104894539
VKORC1
CC
3
Dosage
warfarin
null
Patients with the CC genotype are unlikely to be resistant to warfarin and may require a decreased dose of warfarin as compared to patients with the AA or AC genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239532
981239544
rs104894540
rs104894540
VKORC1
AA
3
Dosage
warfarin
null
Patients with the AA genotype are unlikely to be resistant to warfarin and may require a decreased dose of warfarin as compared to patients with the AG or GG genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239544
981239544
rs104894540
rs104894540
VKORC1
AG
3
Dosage
warfarin
null
Patients with the AG genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the AA genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239544
981239544
rs104894540
rs104894540
VKORC1
GG
3
Dosage
warfarin
null
Patients with the GG genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the AA genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239544
981239556
rs104894541
rs104894541
VKORC1
CC
3
Dosage
warfarin
null
Patients with the CC genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the TT genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239556
981239556
rs104894541
rs104894541
VKORC1
CT
3
Dosage
warfarin
null
Patients with the CT genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the TT genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239556
981239556
rs104894541
rs104894541
VKORC1
TT
3
Dosage
warfarin
null
Patients with the TT genotype are unlikely to be resistant to warfarin and may require a decreased dose of warfarin as compared to patients with the CC or CT genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239556
981239568
rs104894542
rs104894542
VKORC1
AA
3
Dosage
warfarin
null
Patients with the AA genotype are unlikely to be resistant to warfarin and may require a decreased dose of warfarin as compared to patients with the AC or CC genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239568
981239568
rs104894542
rs104894542
VKORC1
AC
3
Dosage
warfarin
null
Patients with the AC genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the AA genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239568
981239568
rs104894542
rs104894542
VKORC1
CC
3
Dosage
warfarin
null
Patients with the CC genotype may be resistant to warfarin, requiring an increased dose of warfarin as compared to patients with the AA genotype. Other genetic and clinical factors may also influence warfarin dose.
https://www.clinpgx.org/clinicalAnnotation/981239568
981239773
rs8099917
rs8099917
IFNL3
GG
1B
Efficacy
interferons;peginterferon alfa-2a;peginterferon alfa-2b;ribavirin
Chronic hepatitis C virus infection
Patients with the rs8099917 GG genotype and chronic hepatitis C infection may have decreased response (lower SVR) to peginterferon alfa and ribavirin therapy as compared to patients with the TT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to p...
https://www.clinpgx.org/clinicalAnnotation/981239773
981239773
rs8099917
rs8099917
IFNL3
GT
1B
Efficacy
interferons;peginterferon alfa-2a;peginterferon alfa-2b;ribavirin
Chronic hepatitis C virus infection
Patients with the rs8099917 GT genotype and chronic hepatitis C infection may have decreased response (lower SVR) to peginterferon alfa and ribavirin therapy as compared to patients with the TT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to p...
https://www.clinpgx.org/clinicalAnnotation/981239773
981239773
rs8099917
rs8099917
IFNL3
TT
1B
Efficacy
interferons;peginterferon alfa-2a;peginterferon alfa-2b;ribavirin
Chronic hepatitis C virus infection
Patients with the rs8099917 TT genotype and chronic hepatitis C infection may have increased response (higher SVR) to peginterferon alfa and ribavirin therapy as compared to patients with the GG or GT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence respon...
https://www.clinpgx.org/clinicalAnnotation/981239773
981240029
rs5219
rs5219
KCNJ11
CC
3
Efficacy
sulfonamides, urea derivatives
Diabetes Mellitus, Type 2
Patients with CC genotype and Type 2 diabetes may have a poorer response (smaller decrease in HbA1c) when receiving treatment with sulfonylureas as compared to patients with genotype CT or TT. Other genetic or clinical factors may also influence a patient's response to sulfonylureas.
https://www.clinpgx.org/clinicalAnnotation/981240029
981240029
rs5219
rs5219
KCNJ11
CT
3
Efficacy
sulfonamides, urea derivatives
Diabetes Mellitus, Type 2
Patients with CT genotype and Type 2 diabetes may have better response (higher decrease in HbA1c) when receiving treatment with sulfonylureas as compared to patients with genotype CC, or a poorer response (smaller decrease in HbA1c) as compared to patients with genotype TT. Other genetic or clinical factors may also in...
https://www.clinpgx.org/clinicalAnnotation/981240029
981240029
rs5219
rs5219
KCNJ11
TT
3
Efficacy
sulfonamides, urea derivatives
Diabetes Mellitus, Type 2
Patients with TT genotype and Type 2 diabetes may have better response (higher decrease in HbA1c) when receiving treatment with sulfonylureas as compared to patients with genotype CC or CT. Other genetic or clinical factors may also influence a patient's response to sulfonylureas.
https://www.clinpgx.org/clinicalAnnotation/981240029
981344897
rs4149056
rs4149056
SLCO1B1
CC
3
Toxicity
cerivastatin
Rhabdomyolysis
Patients with the CC genotype may have a higher risk of cerivastatin-related rhabdomyolysis as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence a patient's risk for toxicity. Cerivastatin was withdrawn from the market because of 52 deaths attributed to drug-related ...
https://www.clinpgx.org/clinicalAnnotation/981344897
981344897
rs4149056
rs4149056
SLCO1B1
CT
3
Toxicity
cerivastatin
Rhabdomyolysis
Patients with the CT genotype may have a higher risk of cerivastatin-related rhabdomyolysis as compared to patients with the TT genotype. Other genetic and clinical factors may also influence a patient's risk for toxicity. Cerivastatin was withdrawn from the market because of 52 deaths attributed to drug-related rhabdo...
https://www.clinpgx.org/clinicalAnnotation/981344897
981344897
rs4149056
rs4149056
SLCO1B1
TT
3
Toxicity
cerivastatin
Rhabdomyolysis
Patients with the TT genotype may have a lower risk of cerivastatin-related rhabdomyolysis as compared to patients with the CC or CT genotype. Other genetic and clinical factors may also influence a patient's risk for toxicity. Cerivastatin was withdrawn from the market because of 52 deaths attributed to drug-related r...
https://www.clinpgx.org/clinicalAnnotation/981344897
981345277
rs25487
rs25487
XRCC1
CC
3
Efficacy
fluorouracil
Colonic Neoplasms;Colorectal Neoplasms;Neoplasms;Rectal Neoplasms;Uterine Cervical Neoplasm
Patients with the CC genotype and cancer may have increased response to fluorouracil-containing chemotherapy regimens, as well as a decreased risk for and a later onset of sensory neuropathy, as compared to patients with the CT or TT genotype. However, all studies evaluated also included other treatments (platinum drug...
https://www.clinpgx.org/clinicalAnnotation/981345277
981345277
rs25487
rs25487
XRCC1
CT
3
Efficacy
fluorouracil
Colonic Neoplasms;Colorectal Neoplasms;Neoplasms;Rectal Neoplasms;Uterine Cervical Neoplasm
Patients with the CT genotype and cancer may have decreased response to fluorouracil-containing chemotherapy regimens, as well as an increased risk for and an earlier onset of sensory neuropathy, as compared to patients with the CC genotype. However, all studies evaluated also included other treatments (platinum drugs ...
https://www.clinpgx.org/clinicalAnnotation/981345277
981345277
rs25487
rs25487
XRCC1
TT
3
Efficacy
fluorouracil
Colonic Neoplasms;Colorectal Neoplasms;Neoplasms;Rectal Neoplasms;Uterine Cervical Neoplasm
Patients with the TT genotype and cancer may have decreased response to fluorouracil-containing chemotherapy regimens, as well as an increased risk for and an earlier onset of sensory neuropathy, as compared to patients with the CC genotype. However, all studies evaluated also included other treatments (platinum drugs ...
https://www.clinpgx.org/clinicalAnnotation/981345277
981345285
rs25487
rs25487
XRCC1
CC
4
Efficacy;Toxicity
cyclophosphamide
Neoplasms;Ovarian Neoplasms
Patients with the CC genotype may have 1) increased survival and 2) increased risk of severe neutropenia when treated with cyclophosphamide-containing chemotherapy regimens as compared to patients with the CT or TT genotype. However, all studies evaluated also included platinum drugs which may interact with this varian...
https://www.clinpgx.org/clinicalAnnotation/981345285
981345285
rs25487
rs25487
XRCC1
CT
4
Efficacy;Toxicity
cyclophosphamide
Neoplasms;Ovarian Neoplasms
Patients with the CT genotype may have 1) decreased survival and 2) decreased risk of severe neutropenia when treated with cyclophosphamide-containing chemotherapy regimens as compared to patients with the CC genotype. However, all studies evaluated also included platinum drugs which may interact with this variant. Oth...
https://www.clinpgx.org/clinicalAnnotation/981345285
981345285
rs25487
rs25487
XRCC1
TT
4
Efficacy;Toxicity
cyclophosphamide
Neoplasms;Ovarian Neoplasms
Patients with the TT genotype may have 1) decreased survival and 2) decreased risk of severe neutropenia when treated with cyclophosphamide-containing chemotherapy regimens as compared to patients with the CC genotype. However, all studies evaluated also included platinum drugs which may interact with this variant. Oth...
https://www.clinpgx.org/clinicalAnnotation/981345285
981345293
rs4149056
rs4149056
SLCO1B1
CC
1A
Metabolism/PK
pravastatin
null
Patients with the rs4149056 CC genotype may have increased plasma concentrations of pravastatin as compared to patients with the TT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence a patient's metabolism of pravastatin. This annotation only covers the phar...
https://www.clinpgx.org/clinicalAnnotation/981345293
981345293
rs4149056
rs4149056
SLCO1B1
CT
1A
Metabolism/PK
pravastatin
null
Patients with the rs4149056 CT genotype may have increased plasma concentrations of pravastatin as compared to patients with the TT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence a patient's metabolism of pravastatin. This annotation only covers the phar...
https://www.clinpgx.org/clinicalAnnotation/981345293
981345293
rs4149056
rs4149056
SLCO1B1
TT
1A
Metabolism/PK
pravastatin
null
Patients with the rs4149056 TT genotype may have decreased plasma concentrations of pravastatin as compared to patients with the CC or CT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence a patient's metabolism of pravastatin. This annotation only covers th...
https://www.clinpgx.org/clinicalAnnotation/981345293
981345311
rs4149056
rs4149056
SLCO1B1
CC
3
Metabolism/PK
atorvastatin;rifampin
null
Patients with the CC genotype may have decreased plasma concentration of atorvastatin when treated concomitantly with rifampin as compared to patients with the TT genotypes. Other genetic and clinical factors may also influence a patient's metabolism and response to atorvastatin.
https://www.clinpgx.org/clinicalAnnotation/981345311
981345311
rs4149056
rs4149056
SLCO1B1
CT
3
Metabolism/PK
atorvastatin;rifampin
null
Patients with the CT genotype may have decreased plasma concentration of atorvastatin when treated concomitantly with rifampin as compared to patients with the TT genotypes. Other genetic and clinical factors may also influence a patient's metabolism and response to atorvastatin.
https://www.clinpgx.org/clinicalAnnotation/981345311
981345311
rs4149056
rs4149056
SLCO1B1
TT
3
Metabolism/PK
atorvastatin;rifampin
null
Patients with the TT genotype may have increased plasma concentration of atorvastatin when treated concomitantly with rifampin as compared to patients with the CC or CT genotypes. Other genetic and clinical factors may also influence a patient's metabolism and response to atorvastatin.
https://www.clinpgx.org/clinicalAnnotation/981345311
981345350
rs4149056
rs4149056
SLCO1B1
CC
1A
Metabolism/PK
rosuvastatin
Hypercholesterolemia
Patients with the rs4149056 CC genotype may have higher plasma concentrations of rosuvastatin as compared to patients with the TT genotype. Other genetic and clinical factors may also influence metabolism of rosuvastatin. This annotation only covers the pharmacokinetic relationship between rs4149056 and rosuvastatin an...
https://www.clinpgx.org/clinicalAnnotation/981345350
981345350
rs4149056
rs4149056
SLCO1B1
CT
1A
Metabolism/PK
rosuvastatin
Hypercholesterolemia
Patients with the rs4149056 CT genotype may have higher plasma concentrations of rosuvastatin as compared to patients with the TT genotype. Other genetic and clinical factors may also influence metabolism of rosuvastatin. This annotation only covers the pharmacokinetic relationship between rs4149056 and rosuvastatin an...
https://www.clinpgx.org/clinicalAnnotation/981345350
981345350
rs4149056
rs4149056
SLCO1B1
TT
1A
Metabolism/PK
rosuvastatin
Hypercholesterolemia
Patients with the rs4149056 TT genotype may have lower plasma concentrations of rosuvastatin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence metabolism of rosuvastatin. This annotation only covers the pharmacokinetic relationship between rs4149056 and rosuvastatin and...
https://www.clinpgx.org/clinicalAnnotation/981345350
981345382
rs4149056
rs4149056
SLCO1B1
CC
2A
Toxicity
HMG-CoA reductase inhibitors
statin-related myopathy
Patients with the rs4149056 CC genotype may have an increased risk of developing myopathy when treated with statins as compared to patients with the TT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also affect risk of statin-induced myopathy.
https://www.clinpgx.org/clinicalAnnotation/981345382
981345382
rs4149056
rs4149056
SLCO1B1
CT
2A
Toxicity
HMG-CoA reductase inhibitors
statin-related myopathy
Patients with the rs4149056 CT genotype may have an increased risk of developing myopathy when treated with statins as compared to patients with the TT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also affect risk of statin-induced myopathy.
https://www.clinpgx.org/clinicalAnnotation/981345382
981345382
rs4149056
rs4149056
SLCO1B1
TT
2A
Toxicity
HMG-CoA reductase inhibitors
statin-related myopathy
Patients with the rs4149056 TT genotype may have a decreased risk of developing myopathy when treated with statins as compared to patients with the CC or CT genotypes. However, conflicting evidence has been reported. Other genetic and clinical factors may also affect risk of statin-induced myopathy.
https://www.clinpgx.org/clinicalAnnotation/981345382
981352141
rs1050828
rs1050828
G6PD
CC
4
Toxicity
artesunate;chlorproguanil;dapsone
Malaria
Patients with the CC genotype with Malaria who are treated with artesunate, chlorproguanil and dapsone may have a decreased, but not absent, risk of hemolysis and severe/unsafe hemoglobin decreases as compared to patients with the CT or TT genotypes. However, one study failed to find this association. Other genetic and...
https://www.clinpgx.org/clinicalAnnotation/981352141
981352141
rs1050828
rs1050828
G6PD
CT
4
Toxicity
artesunate;chlorproguanil;dapsone
Malaria
Patients with the CT genotype with Malaria who are treated with artesunate, chlorproguanil and dapsone may have an increased risk of hemolysis and severe/unsafe hemoglobin decreases as compared to patients with the CC genotype. However, one study failed to find this association. Other genetic and clinical factors may a...
https://www.clinpgx.org/clinicalAnnotation/981352141
981352141
rs1050828
rs1050828
G6PD
TT
4
Toxicity
artesunate;chlorproguanil;dapsone
Malaria
Patients with the TT genotype with Malaria who are treated with artesunate, chlorproguanil and dapsone may have an increased risk of hemolysis and severe/unsafe hemoglobin decreases as compared to patients with the CC genotype. Other genetic and clinical factors may also influence a patient's response to artesunate, ch...
https://www.clinpgx.org/clinicalAnnotation/981352141
981419257
HLA-B*57:01
null
HLA-B
*57:01
1A
Toxicity
abacavir
Drug Hypersensitivity;HIV infectious disease
Patients with one or two copies of the HLA-B*57:01 allele have an increased risk of hypersensitivity to abacavir as compared to patients with no HLA-B*57:01 alleles or negative for the HLA-B*57:01 test. Other genetic and clinical factors may also influence the risk of abacavir-induced adverse reactions.
https://www.clinpgx.org/clinicalAnnotation/981419257
981419260
HLA-B*58:01
null
HLA-B
*58:01
1A
Toxicity
allopurinol
Drug Hypersensitivity;Drug Reaction with Eosinophilia and Systemic Symptoms;Severe Cutaneous Adverse Reactions;Stevens-Johnson Syndrome;Toxic Epidermal Necrolysis
Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, co...
https://www.clinpgx.org/clinicalAnnotation/981419260
981419263
HLA-B*15:02, HLA-B*15:11
null
HLA-B
*15:02
1A
Toxicity
carbamazepine
Drug Reaction with Eosinophilia and Systemic Symptoms;Maculopapular Exanthema;Severe Cutaneous Adverse Reactions;Stevens-Johnson Syndrome;Toxic Epidermal Necrolysis
Patients with one or two copies of the HLA-B*15:02 allele may have an increased risk of Severe Cutaneous Adverse Reactions when treated with carbamazepine as compared to patients with no HLA-B*15:02 alleles or negative for the HLA-B*15:02 test. However, conflicting evidence has been reported. Other genetic and clinical...
https://www.clinpgx.org/clinicalAnnotation/981419263
981419263
HLA-B*15:02, HLA-B*15:11
null
HLA-B
*15:11
1A
Toxicity
carbamazepine
Drug Reaction with Eosinophilia and Systemic Symptoms;Maculopapular Exanthema;Severe Cutaneous Adverse Reactions;Stevens-Johnson Syndrome;Toxic Epidermal Necrolysis
Patients with one or two copies of the HLA-B*15:11 allele may have an increased risk of Severe Cutaneous Adverse Reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with carbamazepine as compared to patients with no HLA-B*15:11 alleles or negative for the HLA-B*15:11 test. However, ...
https://www.clinpgx.org/clinicalAnnotation/981419263
981419266
HLA-B*15:02
null
HLA-B
*15:02
1A
Toxicity
phenytoin
Drug Reaction with Eosinophilia and Systemic Symptoms;Severe Cutaneous Adverse Reactions;Stevens-Johnson Syndrome;Toxic Epidermal Necrolysis
Patients with one or two copies of the HLA-B*15:02 allele may have an increased risk of Severe Cutaneous Adverse Reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with phenytoin as compared to patients with no HLA-B*15:02 alleles or negative for the HLA-B*15:02 test. However, conf...
https://www.clinpgx.org/clinicalAnnotation/981419266
981419487
rs118192172
rs118192172
RYR1
CC
3
Toxicity
HMG-CoA reductase inhibitors
Muscular Diseases
Patients with the rs118192172 CC genotype may have decreased risk to statin-related myopathy as compared patients with the TT or CT genotype. Other genetic and clinical factors may also influence risk of toxicity to statins.
https://www.clinpgx.org/clinicalAnnotation/981419487
981419487
rs118192172
rs118192172
RYR1
CT
3
Toxicity
HMG-CoA reductase inhibitors
Muscular Diseases
Patients with the rs118192172 CT genotype may have increased risk to statin-related myopathy as compared patients with the CC genotype. Other genetic and clinical factors may also influence risk of toxicity to statins.
https://www.clinpgx.org/clinicalAnnotation/981419487
981419487
rs118192172
rs118192172
RYR1
TT
3
Toxicity
HMG-CoA reductase inhibitors
Muscular Diseases
Patients with the rs118192172 TT genotype may have increased risk to statin-related myopathy as compared patients with the CC genotype. Other genetic and clinical factors may also influence risk of toxicity to statins.
https://www.clinpgx.org/clinicalAnnotation/981419487
981419532
rs4693075
rs4693075
COQ2
CC
3
Toxicity
atorvastatin;HMG-CoA reductase inhibitors;rosuvastatin
Muscular Diseases
Patients with the CC genotype may have decreased risk of statin-related muscle symptoms as compared to patients with genotype GG or CG. Other genetic and clinical factors may also influence a patient's risk of toxicity.
https://www.clinpgx.org/clinicalAnnotation/981419532
981419532
rs4693075
rs4693075
COQ2
CG
3
Toxicity
atorvastatin;HMG-CoA reductase inhibitors;rosuvastatin
Muscular Diseases
Patients with the CG genotype may have increased risk of statin-related muscle symptoms as compared to patients with genotype CC. Other genetic and clinical factors may also influence a patient's risk of toxicity.
https://www.clinpgx.org/clinicalAnnotation/981419532
981419532
rs4693075
rs4693075
COQ2
GG
3
Toxicity
atorvastatin;HMG-CoA reductase inhibitors;rosuvastatin
Muscular Diseases
Patients with the GG genotype may have increased risk of statin-related muscle symptoms as compared to patients with genotype CC. Other genetic and clinical factors may also influence a patient's risk of toxicity.
https://www.clinpgx.org/clinicalAnnotation/981419532
981419540
rs6535454
rs6535454
COQ2
AA
3
Toxicity
atorvastatin;HMG-CoA reductase inhibitors;rosuvastatin
Muscular Diseases
Patients with the AA genotype may have increased risk of statin intolerance, defined primarily as muscle symptoms when treated with hmg coa reductase inhibitors as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's risk to statin.
https://www.clinpgx.org/clinicalAnnotation/981419540
981419540
rs6535454
rs6535454
COQ2
AG
3
Toxicity
atorvastatin;HMG-CoA reductase inhibitors;rosuvastatin
Muscular Diseases
Patients with the AG genotype may have increased risk of statin intolerance, defined primarily as muscle symptoms when treated with hmg coa reductase inhibitors as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's risk to statin.
https://www.clinpgx.org/clinicalAnnotation/981419540
981419540
rs6535454
rs6535454
COQ2
GG
3
Toxicity
atorvastatin;HMG-CoA reductase inhibitors;rosuvastatin
Muscular Diseases
Patients with the GG genotype may have decreased risk of statin intolerance, defined primarily as muscle symptoms when treated with hmg coa reductase inhibitors as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence a patient's risk to statin.
https://www.clinpgx.org/clinicalAnnotation/981419540
981419550
rs2819742
rs2819742
RYR2
AA
3
Toxicity
cerivastatin
Rhabdomyolysis
Patients with the AA genotype may have a reduced risk of cerivastatin-associated rhabdomyolysis as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's risk of toxicity.
https://www.clinpgx.org/clinicalAnnotation/981419550
981419550
rs2819742
rs2819742
RYR2
AG
3
Toxicity
cerivastatin
Rhabdomyolysis
Patients with the AG genotype may have a reduced risk of cerivastatin-associated rhabdomyolysis as compared to patients with the GG genotype. Other genetic and clinical factors may also influence a patient's risk of toxicity.
https://www.clinpgx.org/clinicalAnnotation/981419550