Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11592737
rs11592737
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients with endometriosis and control group showed a statistically significant difference (p = 0.0203) and for the HSD17B1 polymorphism (rs605059) differences were not significant (p = 0.0687). 25403437 2015
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C1862382
Disease:
SVEINSSON CHORIORETINAL ATROPHY
0.010 GeneticVariation BEFREE The incidence of LCR was significantly higher in GA/AA patients with CYP2C19 (681G > A) (χ2 = 11.16, P = 0.001) and CYP2C19 (636G > A) (χ2 = 4.829, P = 0.028) than in wildtype GG patients. 25457586 2014
dbSNP: rs12773342
rs12773342
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Our results supported that the CYP2C19 rs12773342 and F7 rs510317 polymorphisms were associated with CHD in the Han Chinese population. 26054681 2015
dbSNP: rs55752064
rs55752064
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0030920
Disease:
Peptic Ulcer
0.010 GeneticVariation BEFREE Individuals with two single nucleotide polymorphisms (SNPs) of cyclooxygenase-1 (COX-1), A-842G and C50T, exhibit increased sensitivity to aspirin and lower prostaglandin synthesis capacity but the polymorphism lacked statistical significance in relation to an association with bleeding peptic ulcer. 26369686 2015
dbSNP: rs4494250
rs4494250
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0428883
Disease:
Diastolic blood pressure
A 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
dbSNP: rs4494250
rs4494250
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0428886
Disease:
Mean blood pressure
A 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE In this study of patients with coronary artery disease the frequencies of the Extreme Metabolizers, Intermediate Metabolizers in CYP2C19*2 (rs4244285) were present in 90% and 10% but no Poor Metabolizers were found in this allele. 27915083 2017
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE In this study of patients with coronary artery disease the frequencies of the Extreme Metabolizers, Intermediate Metabolizers in CYP2C19*2 (rs4244285) were present in 90% and 10% but no Poor Metabolizers were found in this allele. 27915083 2017
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE In this study of patients with coronary artery disease the frequencies of the Extreme Metabolizers, Intermediate Metabolizers in CYP2C19*2 (rs4244285) were present in 90% and 10% but no Poor Metabolizers were found in this allele. 27915083 2017
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration. 28095090 2017
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE Combination of genotypes CYP2C8 rs7909236 TT and CYP2C19 rs4244285 GG was associated with increased EH risk (OR 3.34 95%CI 1.48-7.51, P = 0.004). 28513222 2017
dbSNP: rs3758581
rs3758581
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE Associations were found between toxicities and gene variants (P<0.05), including neutropenia with ABCB1 (rs1045642) and SLC0B3 (rs4149117 and rs7311358); and diarrhoea with CYP2C9 (rs1057910), CYP2C19 (rs3758581), UGT1A6 (rs4124874) and SLC22A1 (rs72552763). 28817838 2017
dbSNP: rs3758581
rs3758581
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0011991
Disease:
Diarrhea
0.010 GeneticVariation BEFREE Associations were found between toxicities and gene variants (P<0.05), including neutropenia with ABCB1 (rs1045642) and SLC0B3 (rs4149117 and rs7311358); and diarrhoea with CYP2C9 (rs1057910), CYP2C19 (rs3758581), UGT1A6 (rs4124874) and SLC22A1 (rs72552763). 28817838 2017
dbSNP: rs3758581
rs3758581
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE Associations were found between toxicities and gene variants (P<0.05), including neutropenia with ABCB1 (rs1045642) and SLC0B3 (rs4149117 and rs7311358); and diarrhoea with CYP2C9 (rs1057910), CYP2C19 (rs3758581), UGT1A6 (rs4124874) and SLC22A1 (rs72552763). 28817838 2017
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0742343
Disease:
Acute Chest Syndrome
0.030 GeneticVariation BEFREE We genotyped eight common PEAR1 SNPs (rs2768759, rs12566888, rs12041331, rs11264579, rs2644592, rs822441, rs822442, and rs4661012), also CYP2C19*2 (rs4244285) and CYP2C19*3 (rs4986893) in 196 Chinese patients with ACS. 29407631 2018
dbSNP: rs4986893
rs4986893
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0742343
Disease:
Acute Chest Syndrome
0.020 GeneticVariation BEFREE We genotyped eight common PEAR1 SNPs (rs2768759, rs12566888, rs12041331, rs11264579, rs2644592, rs822441, rs822442, and rs4661012), also CYP2C19*2 (rs4244285) and CYP2C19*3 (rs4986893) in 196 Chinese patients with ACS. 29407631 2018
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE We found that rs4244285 G>A polymorphism of the CYP2C19 gene was associated with the risk of HALT in the overdominant model (OR 4.00 [1.15-13.97], P = 0.02 for GA vs. GG+AA) adjusted by sex and the presence of pre-TAVR AF. 29478129 2018
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE In conclusion, our study suggests that rs4880 and rs4244285 polymorphisms play an important role in development of breast cancer in an Iraqi population, and no significant association was found between rs1801274 and the risk of breast cancer. 29482947 2018
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE In conclusion, our study suggests that rs4880 and rs4244285 polymorphisms play an important role in development of breast cancer in an Iraqi population, and no significant association was found between rs1801274 and the risk of breast cancer. 29482947 2018
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE CYP2C19 (G681A) variant and ALDH1A1*2 emerged as two important biomarkers associated with bad outcome in breast cancer patients on adjuvant therapy. 29938344 2018
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE CYP2C19 (G681A) variant and ALDH1A1*2 emerged as two important biomarkers associated with bad outcome in breast cancer patients on adjuvant therapy. 29938344 2018
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE Two gene variants, CYP2C19 (G681A) and ALDH1A1*2 (17 bp deletion), were found to be significantly associated with the disease outcome, including overall survival, recurrence and metastasis, in breast cancer patients on adjuvant therapy. 29938344 2018
dbSNP: rs199562446
rs199562446
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0030920
Disease:
Peptic Ulcer
0.010 GeneticVariation BEFREE CYP2C19*2 polymorphism (rs4244285) changing the CYP2C19 function could be relevant in the predisposition to peptic ulcer disease. 30826566 2019
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0742343
Disease:
Acute Chest Syndrome
0.030 GeneticVariation BEFREE The null allele in the CYP2C19 (rs4244285</span>) [odds ratio (OR)=5.317, 95% confidence interval (CI) 1.542-26.428, P=0.001] and CYP2C19 (rs4986893) (OR=4.295, 95%CI 1.312-17.517, P=0.013) is one of the causes of CR in patients with ACS in China. 31543510 2019