Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12333599
rs12333599
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0032181
Disease:
Platelet Count measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1251035592
rs1251035592
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0020473
Disease:
Hyperlipidemia
0.010 GeneticVariation BEFREE The SLCO1B1 521T > C and 388A > G variants were found to be relatively common in Chinese patients with essential hyperlipidemia. 23263738 2013
dbSNP: rs1474798132
rs1474798132
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
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: rs1474798132
rs1474798132
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
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: rs15524
rs15524
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE rs776746 and rs15524 in the CYP3A5 gene tend to affect CBZ metabolism, and rs2032582, rs10234411 in the ABCB1 gene may contribute to inter-individual variation in CBZ and in CBZ-E transport among patients with epilepsy using CBZ in combination with PHT or PB. 26421491 2015
dbSNP: rs200764640
rs200764640
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE To examine the association between six SNPs, CYP1A1(*)2A, CYP1A1(*)2C, CYP1A2(*)1F, CYP1B1 Arg(48)Gly, CYP1B1 Leu(432)Val and CYP3A5*3 and breast cancer risk, therefore, we conducted hospital-based case-control studies in Nagano, Japan and São Paulo, Brazil including 873 pairs (403 Japanese (JJ), 81 Japanese Brazilians (JB) and 389 non-Japanese Brazilians (NJB)). 19229255 2009
dbSNP: rs200764640
rs200764640
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE To examine the association between six SNPs, CYP1A1(*)2A, CYP1A1(*)2C, CYP1A2(*)1F, CYP1B1 Arg(48)Gly, CYP1B1 Leu(432)Val and CYP3A5*3 and breast cancer risk, therefore, we conducted hospital-based case-control studies in Nagano, Japan and São Paulo, Brazil including 873 pairs (403 Japanese (JJ), 81 Japanese Brazilians (JB) and 389 non-Japanese Brazilians (NJB)). 19229255 2009
dbSNP: rs41303343
rs41303343
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0519826
Disease:
ASSAY FOR TACROLIMUS
0.700 GeneticVariation GWASCAT Genetic Variants Associated With Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF Genomics Genome-wide Association Studies. 30801552 2019
dbSNP: rs4646450
rs4646450
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0441683
Disease:
Hormone measurement
0.700 GeneticVariation GWASDB Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. 21533175 2011
dbSNP: rs4646450
rs4646450
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE CYP3A5 rs4646450 TT was 17% among ALL cases with FS lower than 28, and 3% in ALL patients without pathological FS (p = 5.60E-03; OR = 6.94 (1.76-27.39)). 29970035 2018
dbSNP: rs4646450
rs4646450
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE CYP3A5 rs4646450 TT was 17% among ALL cases with FS lower than 28, and 3% in ALL patients without pathological FS (p = 5.60E-03; OR = 6.94 (1.76-27.39)). 29970035 2018
dbSNP: rs4646450
rs4646450
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation BEFREE CYP3A5 rs4646450 TT was 17% among ALL cases with FS lower than 28, and 3% in ALL patients without pathological FS (p = 5.60E-03; OR = 6.94 (1.76-27.39)). 29970035 2018
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0519826
Disease:
ASSAY FOR TACROLIMUS
0.700 GeneticVariation GWASCAT Genetic Variants Associated With Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF Genomics Genome-wide Association Studies. 30801552 2019
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE Our finding suggested that wild-type CYP3A4 rs2242480 (TT) carriers should be more cautious to take tacrolimus when they are coadministrated with calcium channel blockers, and CYP3A5 rs776746 (AA) carriers may need higher tacrolimus dosage when they are in combination with hypertension. 30861159 2019
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE Overall, no associations were observed between the rs776746 polymorphism and BP/hypertension. 21814220 2011
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the risk for hypertension in pregnancy has not been evaluated.We compared the allele and genotype frequencies of three functional SNPs in the CYP3A5 (rs776746), CYP3A4 (rs2740574), and CYP21A2 (rs6471) genes between pregnant women who developed hypertension (n = 250) or who remained normotensive (control group, n = 250). 20617557 2010
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE We explored the association between the CYP3A5 (rs776746) gene and hypertension in the Chinese Han population. 28448186 2017
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0041296
Disease:
Tuberculosis
0.020 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: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0041296
Disease:
Tuberculosis
0.020 GeneticVariation BEFREE The aim of this study was to examine the effect of two gene polymorphisms, one in the CYP2B6 (rs3745274) gene and one in the CYP3A5 (rs776746) gene, on the development of hepatotoxicity in patients treated with anti-TB drugs in a Brazilian Amazon population. 25271170 2015
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (rs9551963), SG13S42 (rs4769060), SG13S89 (rs4769874), and SG13S114 (rs10507391) variants of the 5-lipoxygenase activating protein (ALOX5AP) gene, the G860A (rs751141) variant of the soluble epoxide hydrolase (EPHX2) gene, the A1075C (rs1057910) variant of the CYP2C9*2 gene, the C430T (rs1799853) variant of the CYP2C9*3 gene, and the A6986G (rs776746) variant of the CYP3A5 gene. 24368493 2014
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE The interaction between rs10507391 and rs776746 increases the susceptibility to ischemic stroke and is associated with atherothrombotic events in stroke patients. 25534367 2015
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Emerging evidences suggest that CYP3A5*3 (rs776746 A>G) polymorphism may play a role in the etiology of carcinogenesis and affect an individual's susceptibility to cancer in humans, but individually published studies showed inconclusive results. 23584898 2013
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE The interaction between rs10507391 and rs776746 increases the susceptibility to ischemic stroke and is associated with atherothrombotic events in stroke patients. 25534367 2015
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Variation of the CYP3A5*3 (rs776746 A > G) can lead to oxidation and inactivation of testosterone, which may result in individual susceptibility to prostate cancer. 29970707 2018
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE Although univariate analysis in all patients did not reveal any association at first, further analysis indicated that rs776746 is significantly associated with severe neutropenia in subgroup of breast cancer patients with normal baseline ANC (≥2.0 × 10(9)/L). 23143606 2013