Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1058172
rs1058172
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C1269683
Disease:
Major Depressive Disorder
0.700 GeneticVariation GWASCAT Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. 24528284 2014
dbSNP: rs1058172
rs1058172
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C3158111
Disease:
response to SSRI
0.700 GeneticVariation GWASCAT Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. 24528284 2014
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C3158111
Disease:
response to SSRI
0.700 GeneticVariation GWASCAT Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. 24528284 2014
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C1269683
Disease:
Major Depressive Disorder
0.700 GeneticVariation GWASCAT Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. 24528284 2014
dbSNP: rs1135840
rs1135840
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C3203671
Disease:
CYP2D6 polymorphism
0.030 GeneticVariation BEFREE The effects of selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine and paroxetine on dopamine formation from p-tyramine, mediated by cytochrome P450 (CYP) 2D6.2 (Arg296Cys, Ser486Thr) and CYP2D6.10 (Pro34Ser, Ser486Thr), were compared with their effects on CYP2D6.1 (wild type)-mediated dopamine formation, to investigate the influence of a CYP2D6 polymorphism on neuroactive amine metabolism in the brain. 31804922 2019
dbSNP: rs1135840
rs1135840
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C3203671
Disease:
CYP2D6 polymorphism
0.030 GeneticVariation BEFREE The inhibitory effects of antidepressants, such as imipramine, desipramine, and fluvoxamine, on dopamine formation from p-tyramine catalyzed by cytochrome P450 (CYP) 2D6.2 (Arg296Cys, Ser486Thr) and CYP2D6.10 (Pro34Ser, Ser486Thr), were compared with those on dopamine formation catalyzed by CYP2D6.1 (wild type), to investigate the effect of a CYP2D6 polymorphism on neuroactive amine metabolism in the brain. 29602316 2018
dbSNP: rs1135840
rs1135840
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C3203671
Disease:
CYP2D6 polymorphism
0.030 GeneticVariation BEFREE The inhibitory effects of steroid hormones, including glucocorticoids such as cortisol, and related compounds on dopamine formation from p-tyramine, catalyzed by cytochrome P450 (CYP) 2D6.2 (Arg296Cys, Ser486Thr) and CYP2D6.10 (Pro34Ser, Ser486Thr) were compared with the effects of those catalyzed by CYP2D6.1 (wild type), to investigate the effect of a CYP2D6 polymorphism on neuroactive amine metabolism in the brain. 28347660 2017
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Results indicate that C100T and high serum cholesterol are risk factors of ineffective endoxifen levels in Taiwanese breast cancer patients. 31195002 2019
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Results indicate that C100T and high serum cholesterol are risk factors of ineffective endoxifen levels in Taiwanese breast cancer patients. 31195002 2019
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE The purpose of the study was to determine the association between CYP2D6*10 (c.100C>T) genotype and attainment of the plasma steady-state Z-END minimal threshold concentration (MTC) in Indonesian women with breast cancer. 30843495 2019
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE The purpose of the study was to determine the association between CYP2D6*10 (c.100C>T) genotype and attainment of the plasma steady-state Z-END minimal threshold concentration (MTC) in Indonesian women with breast cancer. 30843495 2019
dbSNP: rs1080985
rs1080985
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE Replication study to confirm the role of CYP2D6 polymorphism rs1080985 on donepezil efficacy in Alzheimer's disease patients. 22465999 2012
dbSNP: rs1135840
rs1135840
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C0595921
Disease:
Intraocular pressure disorder
0.020 GeneticVariation BEFREE Neither rs16947 (P = 0.339) nor rs1135840 (P = 0.903) genotype was statistically correlated with the IOP-lowering effect of timolol eye drops. 20925579 2010
dbSNP: rs16947
rs16947
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C0595921
Disease:
Intraocular pressure disorder
0.020 GeneticVariation BEFREE Neither rs16947 (P = 0.339) nor rs1135840 (P = 0.903) genotype was statistically correlated with the IOP-lowering effect of timolol eye drops. 20925579 2010
dbSNP: rs16947
rs16947
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE The rs16947 genotype was significantly associated with occurrence of bradycardia in primary open-angle glaucoma patients (P = 0.021). 20925579 2010
dbSNP: rs1080985
rs1080985
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE The single nucleotide polymorphism rs1080985 in the CYP2D6 gene may influence the clinical efficacy of donepezil in patients with mild to moderate Alzheimer disease (AD). 19738170 2009
dbSNP: rs1135840
rs1135840
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C0595921
Disease:
Intraocular pressure disorder
0.020 GeneticVariation BEFREE According to SNP genotyping in 73 subjects, there was no significant difference of IOP between subjects with different CYP2D6 Arg296Cys (P = 0.308) or Ser486Thr genotypes (P = 0.741). 19284319 2009
dbSNP: rs16947
rs16947
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C0595921
Disease:
Intraocular pressure disorder
0.020 GeneticVariation BEFREE According to SNP genotyping in 73 subjects, there was no significant difference of IOP between subjects with different CYP2D6 Arg296Cys (P = 0.308) or Ser486Thr genotypes (P = 0.741). 19284319 2009
dbSNP: rs16947
rs16947
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE CYP2D6 SNP Arg296Cys appeared to be correlative with the intersubject variability seen with timolol in POAG subjects. 19284319 2009
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C3203671
Disease:
CYP2D6 polymorphism
0.010 GeneticVariation BEFREE The effects of selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine and paroxetine on dopamine formation from p-tyramine, mediated by cytochrome P450 (CYP) 2D6.2 (Arg296Cys, Ser486Thr) and CYP2D6.10 (Pro34Ser, Ser486Thr), were compared with their effects on CYP2D6.1 (wild type)-mediated dopamine formation, to investigate the influence of a CYP2D6 polymorphism on neuroactive amine metabolism in the brain. 31804922 2019
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE This study revealed that rs1065852, rs2043449, rs2762s934, and rs6068816 of CYPs were associated with LC susceptibility in the Northwestern Chinese Han population; CYP2D6 and CYP20A1 were overexpressed and correlated with prognosis of LC. 31264381 2019
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE This study revealed that rs1065852, rs2043449, rs2762s934, and rs6068816 of CYPs were associated with LC susceptibility in the Northwestern Chinese Han population; CYP2D6 and CYP20A1 were overexpressed and correlated with prognosis of LC. 31264381 2019
dbSNP: rs1065852
rs1065852
Entrez Id: 1565;100132273;112268294
Gene Symbol: CYP2D6;NDUFA6-DT;LOC112268294
CYP2D6;NDUFA6-DT;LOC112268294
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE This study revealed that rs1065852, rs2043449, rs2762s934, and rs6068816 of CYPs were associated with LC susceptibility in the Northwestern Chinese Han population; CYP2D6 and CYP20A1 were overexpressed and correlated with prognosis of LC. 31264381 2019
dbSNP: rs1135840
rs1135840
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C0162557
Disease:
Liver Failure, Acute
0.010 GeneticVariation BEFREE The 2 most common variants, rs4940595 and rs1135840, of the SERPINB11 and CYP2D6 genes, respectively, found in our patients with ALF have been described as potentially important in the adaptive response combating the emergence of infectious diseases and associated with hepatotoxicity of antituberculous therapy, respectively. 31609742 2019
dbSNP: rs16947
rs16947
Entrez Id: 1565;100132273
Gene Symbol: CYP2D6;NDUFA6-DT
CYP2D6;NDUFA6-DT
CUI: C3203671
Disease:
CYP2D6 polymorphism
0.010 GeneticVariation BEFREE The effects of selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine and paroxetine on dopamine formation from p-tyramine, mediated by cytochrome P450 (CYP) 2D6.2 (Arg296Cys, Ser486Thr) and CYP2D6.10 (Pro34Ser, Ser486Thr), were compared with their effects on CYP2D6.1 (wild type)-mediated dopamine formation, to investigate the influence of a CYP2D6 polymorphism on neuroactive amine metabolism in the brain. 31804922 2019