Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and CYP3A5*3(A22893G) are the most common polymorphisms detected among Chinese that may influence the efficacy of vinorelbine-based therapies to treat non-small-cell lung cancer (NSCLC). 17450472 2007
dbSNP: rs4986893
rs4986893
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and CYP3A5*3(A22893G) are the most common polymorphisms detected among Chinese that may influence the efficacy of vinorelbine-based therapies to treat non-small-cell lung cancer (NSCLC). 17450472 2007
dbSNP: rs868063722
rs868063722
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and CYP3A5*3(A22893G) are the most common polymorphisms detected among Chinese that may influence the efficacy of vinorelbine-based therapies to treat non-small-cell lung cancer (NSCLC). 17450472 2007
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C3203672
Disease:
CYP2C19 polymorphism
0.020 GeneticVariation BEFREE Thus, this study describes the possible relationship between a CYP2C19 polymorphism (681G>A) and three inflammatory markers: interleukin (IL)-6, tumor necrosis factor-alpha (TNF-alpha) and high sensitivity C-reactive protein (hs-CRP) in healthy individuals. 18205890 2008
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE In the present study we analyzed the association of three polymorphisms of CYP2C19 namely CYP2C19*2 (CYP2C19_681_G>A, rs4244285), CYP2C19*3 (CYP2C19_636_G>A, rs57081121) and CYP2C19*17 (CYP2C19_-806_C>T, rs12248560), with breast cancer susceptibility. 18521743 2009
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE In the present study we analyzed the association of three polymorphisms of CYP2C19 namely CYP2C19*2 (CYP2C19_681_G>A, rs4244285), CYP2C19*3 (CYP2C19_636_G>A, rs57081121) and CYP2C19*17 (CYP2C19_-806_C>T, rs12248560), with breast cancer susceptibility. 18521743 2009
dbSNP: rs12248560
rs12248560
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In the present study we analyzed the association of three polymorphisms of CYP2C19 namely CYP2C19*2 (CYP2C19_681_G>A, rs4244285), CYP2C19*3 (CYP2C19_636_G>A, rs57081121) and CYP2C19*17 (CYP2C19_-806_C>T, rs12248560), with breast cancer susceptibility. 18521743 2009
dbSNP: rs12248560
rs12248560
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In the present study we analyzed the association of three polymorphisms of CYP2C19 namely CYP2C19*2 (CYP2C19_681_G>A, rs4244285), CYP2C19*3 (CYP2C19_636_G>A, rs57081121) and CYP2C19*17 (CYP2C19_-806_C>T, rs12248560), with breast cancer susceptibility. 18521743 2009
dbSNP: rs4917623
rs4917623
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Association of genotypes with breast cancer risk was evaluated using multivariate logistic regression, which suggested an altered risk for the following SNPs [gene, odds ratio (OR) and 95% confidence interval are shown]: heterozygote carriers of rs4917623 [CYP2C19, OR = 1.38 (1.04-1.84)], rs2066853 [AhR, OR = 1.34 (1.02-1.76)] and rs1857407 [ERRG, (OR = 0.72 (0.55-0.96)]; homozygote carriers of rs762551 [CYP1A2, OR = 2.75 (1.47-5.14)], rs4917623 [CYP2C19, OR = 1.48 (1.00-2.19) and rs945453 [ERRG, OR = 1.66 (1.04-2.65)]. 19415745 2009
dbSNP: rs4917623
rs4917623
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Association of genotypes with breast cancer risk was evaluated using multivariate logistic regression, which suggested an altered risk for the following SNPs [gene, odds ratio (OR) and 95% confidence interval are shown]: heterozygote carriers of rs4917623 [CYP2C19, OR = 1.38 (1.04-1.84)], rs2066853 [AhR, OR = 1.34 (1.02-1.76)] and rs1857407 [ERRG, (OR = 0.72 (0.55-0.96)]; homozygote carriers of rs762551 [CYP1A2, OR = 2.75 (1.47-5.14)], rs4917623 [CYP2C19, OR = 1.48 (1.00-2.19) and rs945453 [ERRG, OR = 1.66 (1.04-2.65)]. 19415745 2009
dbSNP: rs57081121
rs57081121
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In the present study we analyzed the association of three polymorphisms of CYP2C19 namely CYP2C19*2 (CYP2C19_681_G>A, rs4244285), CYP2C19*3 (CYP2C19_636_G>A, rs57081121) and CYP2C19*17 (CYP2C19_-806_C>T, rs12248560), with breast cancer susceptibility. 18521743 2009
dbSNP: rs57081121
rs57081121
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In the present study we analyzed the association of three polymorphisms of CYP2C19 namely CYP2C19*2 (CYP2C19_681_G>A, rs4244285), CYP2C19*3 (CYP2C19_636_G>A, rs57081121) and CYP2C19*17 (CYP2C19_-806_C>T, rs12248560), with breast cancer susceptibility. 18521743 2009
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE To determine whether the 681 G>A (*2) polymorphism of cytochrome P450 (CYP2C19) is related to suboptimal reperfusion and mortality in patients with acute myocardial infarction (AMI) pretreated with clopidogrel. 20924183 2010
dbSNP: rs10509676
rs10509676
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The present results indicate that hypertension is associated with the AA genotype of rs10509676 in the human CYP2C19 gene. 21332417 2011
dbSNP: rs1187513719
rs1187513719
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE Unlike CYP2C19 polymorphism, PON1 (Q192R) polymorphism is not a major pharmacogenetic contributor of clinical response to clopidogrel in AMI patients. 21918510 2011
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE The aim of the present study was to evaluate the association between two variants, CYP2C19* 2 (681G>A) and CYP2C19*3 (636G>A) and the development of essential hypertension (EH) in Koreans. 23074110 2012
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE The aim of this study was to investigate whether the genetic functional variant 681G>A (*2) of cytochrome CYP2C19 is associated with adverse cardiovascular outcomes in Chinese patients with coronary artery disease (CAD). 22071359 2012
dbSNP: rs4986893
rs4986893
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE The aim of the present study was to evaluate the association between two variants, CYP2C19* 2 (681G>A) and CYP2C19*3 (636G>A) and the development of essential hypertension (EH) in Koreans. 23074110 2012
dbSNP: rs4986893
rs4986893
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE CYP2C19 (636 G>A, rs4986893) A allele and AG genotype were associated with decreased susceptibility to TB (P = 0.006, OR= 0.33, 95% CI: 0.15-0.76; and P = 0.005, OR =0.31, 95% CI: 0.14-0.72 respectively), as were the CYP3A5 (6986A>G, rs776746) G allele and particularly homozygous GG (recessive mode) genotype (P = 0.004, OR=0.61, 95% CI: 0.43-0.85; and P=0.002, OR=0.47, 95% CI: 0.29-0.76). 22771593 2012
dbSNP: rs4986893
rs4986893
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE CYP2C19 (636 G>A, rs4986893) A allele and AG genotype were associated with decreased susceptibility to TB (P = 0.006, OR= 0.33, 95% CI: 0.15-0.76; and P = 0.005, OR =0.31, 95% CI: 0.14-0.72 respectively), as were the CYP3A5 (6986A>G, rs776746) G allele and particularly homozygous GG (recessive mode) genotype (P = 0.004, OR=0.61, 95% CI: 0.43-0.85; and P=0.002, OR=0.47, 95% CI: 0.29-0.76). 22771593 2012
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE In n=1050 patients with stable CHD at baseline genotyping of CYP2C19 allele *2 (rs4244285; 681G>A) was performed. 23981380 2013
dbSNP: rs1187513719
rs1187513719
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0002965
Disease:
Angina, Unstable
0.010 GeneticVariation BEFREE This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) on clopidogrel responsiveness in a cohort of Chinese patients with unstable angina pectoris. 23993903 2013
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0002965
Disease:
Angina, Unstable
0.010 GeneticVariation BEFREE This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) on clopidogrel responsiveness in a cohort of Chinese patients with unstable angina pectoris. 23993903 2013
dbSNP: rs4244285
rs4244285
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE Haplotype analysis revealed significant association of G(rs10509681)-*1(rs1799853)-*3(rs1057910)-G(rs4244285) on chromosome 10 with overall toxicity (P=0.024) and grade 2-4 leucopenia (P=0.03). 24768782 2014
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