Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776746
rs776746
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: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0009782
Disease:
Connective Tissue Diseases
0.010 GeneticVariation BEFREE A total of 72 patients with CTD were recruited in the current study and genotyped for rs776746 in CYP3A5, which showed strong association with TAC concentration in patients with solid organ transplantation. 24352002 2014
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
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0027947
Disease:
Neutropenia
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
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0678222
Disease:
Breast Carcinoma
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
dbSNP: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE Contrasting results have been reported on the role of rs628031 and rs683369 polymorphisms of SLC22A1 and rs776746 of CYP3A5 on imatinib treatment response in patients with chronic myeloid leukemia (CML). 29427770 2018
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: 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: rs777175289
rs777175289
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: 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: rs776746
rs776746
Entrez Id: 1577;221785
Gene Symbol: CYP3A5;ZSCAN25
CYP3A5;ZSCAN25
CUI: C4721579
Disease:
Secondary malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE CYP3A5 rs776746 A>G polymorphisms have a prognostic contribution toward FOLFIRI regimen in mCRC. 25934339 2015
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: 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: 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: 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: C0006826
Disease:
Malignant Neoplasms
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: C1306459
Disease:
Primary malignant neoplasm
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: 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: 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: 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: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE In this study, we compared genetic variants influencing the effect of smoking on COPD, that is, the effect of the well-known splicing defect polymorphism, CYP3A5*3 (rs776746), identified before genome-wide association studies, with the genome-wide association studies identified CHRNA3 (rs1051730) polymorphism on the risk of decreased lung function and COPD. 24535486 2014
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