chr16:69745145:G>A Detail (hg19) (NQO1)

Information

Genome

Assembly Position
hg19 chr16:69,745,145-69,745,145
hg38 chr16:69,711,242-69,711,242 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001025434.1:c.445C>T NP_001020605.1:p.Pro149Ser
NM_001025433.1:c.457C>T NP_001020604.1:p.Pro153Ser
NM_001286137.1:c.457C>T NP_001273066.1:p.Pro153Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.387
ToMMo:0.370
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.450

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 125860 OMIM
HGNC 2874 HGNC
Ensembl ENSG00000181019 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55953195 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2008-07-01 no assertion criteria provided Benzene toxicity, susceptibility to germline Detail
risk factor 2008-07-01 no assertion criteria provided Leukemia, post-chemotherapy, susceptibility to germline Detail
Pathogenic 2008-07-01 no assertion criteria provided Breast cancer, post-chemotherapy poor survival in germline Detail
not provided 2016-03-10 no assertion provided lung carcinoma somatic Detail
Benign 2019-10-17 criteria provided, single submitter NQO1-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung cancer Amrubicin D Predictive Supports Sensitivity/Response Common Germline 2 21964527 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Adenoma of large intestine Although with modest limitations and biases, this metaanalysis suggests that EPH... BeFree 22161138 Detail
<0.001 Adenoma of large intestine Although with modest limitations and biases, this metaanalysis suggests that EPH... BeFree 22161138 Detail
0.001 Adenoma of large intestine Although with modest limitations and biases, this metaanalysis suggests that EPH... BeFree 22161138 Detail
<0.001 pancreatic carcinoma According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
0.122 pancreatic carcinoma According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
0.004 Malignant neoplasm of pancreas According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
<0.001 Malignant neoplasm of pancreas According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
0.240 Malignant neoplasm of breast Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk f... BeFree 15138483 Detail
0.080 breast carcinoma Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk f... BeFree 15138483 Detail
0.001 Malignant tumor of cervix Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs18005... BeFree 23534750 Detail
0.001 cervix carcinoma Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs18005... BeFree 23534750 Detail
0.003 coronary artery disease XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... BeFree 24315498 Detail
<0.001 coronary artery disease XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... BeFree 24315498 Detail
0.007 breast carcinoma The NQO1 Pro187Ser polymorphism and breast cancer susceptibility: evidence from ... BeFree 24884893 Detail
0.002 colorectal carcinoma NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism is found to have ... BeFree 22215148 Detail
<0.001 Diabetes No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
0.002 Malignant neoplasm of urinary bladder Association between NAD(P)H:quinone oxidoreductase 1 rs1800566 polymorphism and ... BeFree 23873104 Detail
0.026 Malignant neoplasm of urinary bladder The association between NQO1 Pro187Ser polymorphism and bladder cancer susceptib... BeFree 25602258 Detail
0.030 Malignant neoplasm of breast The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... BeFree 21329464 Detail
0.034 colorectal cancer Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism a... BeFree 22306249 Detail
0.026 Malignant neoplasm of urinary bladder The NQO1 rs1800566 polymorphism and risk of bladder cancer: evidence from 6,169 ... BeFree 23464456 Detail
0.001 Tardive Dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.009 Esophageal Neoplasms NQO1 rs1800566 C&gt;T polymorphism was associated with a decreased risk of esoph... BeFree 24354914 Detail
0.001 lingual-facial-buccal dyskinesia (2004) originally reported a significant association between TD and the NADPH qu... BeFree 19778569 Detail
0.004 colorectal carcinoma Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a ... BeFree 22215148 Detail
0.007 breast carcinoma Evidence on the association between NQO1 Pro187Ser polymorphism and breast cance... BeFree 20526805 Detail
0.036 Malignant neoplasm of breast The NQO1 Pro187Ser polymorphism and breast cancer susceptibility: evidence from ... BeFree 24884893 Detail
0.010 Tardive Dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
<0.001 diabetes mellitus No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
<0.001 Tardive Dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
<0.001 Tardive Dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.036 Malignant neoplasm of breast NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic ... BeFree 18511948 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
<0.001 Tardive Dyskinesia (2004) originally reported a significant association between TD and the NADPH qu... BeFree 19778569 Detail
0.034 colorectal cancer Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a ... BeFree 22215148 Detail
0.034 colorectal cancer NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and the risk of l... BeFree 16702380 Detail
0.026 Malignant neoplasm of urinary bladder Results of this study strongly suggest that the variant allele of NQO1 (Pro187Se... BeFree 21253823 Detail
0.002 colorectal cancer NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism is found to have ... BeFree 22215148 Detail
0.004 Squamous cell carcinoma of esophagus The NQO1 rs1800566 TT genotype was associated with a decreased risk of ESCC in a... BeFree 24354914 Detail
0.007 breast carcinoma The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... BeFree 21329464 Detail
<0.001 Malignant neoplasm of stomach quinone oxidoreductase 1 (NQO1) gene C609T polymorphism (rs1800566) and gastric ... BeFree 24716985 Detail
0.011 Malignant neoplasm of esophagus Association between NQO1 Pro187Ser polymorphism and esophageal cancer: a meta-an... BeFree 24213850 Detail
0.034 colorectal cancer NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal ca... BeFree 20593958 Detail
0.002 esophageal carcinoma NQO1 rs1800566 C&gt;T polymorphism was associated with a decreased risk of esoph... BeFree 24354914 Detail
0.001 breast carcinoma NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic ... BeFree 18511948 Detail
0.009 schizophrenia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
<0.001 Diabetes No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
0.004 colorectal carcinoma Meta-analysis of the association between NQO1 Pro187Ser polymorphism and colorec... BeFree 24142528 Detail
0.002 colorectal carcinoma NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal ca... BeFree 20593958 Detail
0.008 Carcinoma of lung In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated wit... BeFree 16702380 Detail
<0.001 stomach carcinoma quinone oxidoreductase 1 (NQO1) gene C609T polymorphism (rs1800566) and gastric ... BeFree 24716985 Detail
0.002 esophageal carcinoma Association between NQO1 Pro187Ser polymorphism and esophageal cancer: a meta-an... BeFree 24213850 Detail
0.295 diabetes mellitus No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
0.036 Malignant neoplasm of breast The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... BeFree 21329464 Detail
0.004 Carcinoma of bladder The NQO1 rs1800566 polymorphism and risk of bladder cancer: evidence from 6,169 ... BeFree 23464456 Detail
0.371 Diabetes Mellitus, Insulin-Dependent No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
0.001 Malignant neoplasm of breast NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic ... BeFree 18511948 Detail
0.004 Carcinoma of bladder Results of this study strongly suggest that the variant allele of NQO1 (Pro187Se... BeFree 21253823 Detail
0.080 Diabetes No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
<0.001 leukemia The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymor... BeFree 22976839 Detail
0.120 Leukemia, post-chemotherapy, susceptibility to NA CLINVAR Detail
0.002 colorectal cancer NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal ca... BeFree 20593958 Detail
0.024 leukemia The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymor... BeFree 22976839 Detail
0.036 Malignant neoplasm of breast Evidence on the association between NQO1 Pro187Ser polymorphism and breast cance... BeFree 20526805 Detail
0.004 colorectal carcinoma Results from our meta-analyses suggest that the variant NQO1 Pro187Ser genotype ... BeFree 16702380 Detail
0.002 Adenocarcinoma of lung (disorder) In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated wit... BeFree 16702380 Detail
0.004 Carcinoma of lung The association between NAD(P)H:quinone oxidoreductase 1 (NQO1) gene C609T polym... BeFree 23110137 Detail
0.004 colorectal carcinoma NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal ca... BeFree 20593958 Detail
<0.001 Cancer of Urinary Tract The association between NQO1 Pro187Ser polymorphism and urinary system cancer su... BeFree 25608636 Detail
<0.001 schizophrenia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.007 breast carcinoma NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic ... BeFree 18511948 Detail
<0.001 acute leukemia NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphis... BeFree 22976839 Detail
0.001 lingual-facial-buccal dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.060 Malignant neoplasm of lung In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated wit... BeFree 16702380 Detail
0.034 colorectal cancer Meta-analysis of the association between NQO1 Pro187Ser polymorphism and colorec... BeFree 24142528 Detail
0.019 squamous cell carcinoma In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated wit... BeFree 16702380 Detail
<0.001 schizophrenia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.003 Diabetes Mellitus, Insulin-Dependent No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
0.004 Malignant neoplasm of lung The association between NAD(P)H:quinone oxidoreductase 1 (NQO1) gene C609T polym... BeFree 23110137 Detail
0.010 lingual-facial-buccal dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.009 Esophageal Neoplasms Association between NQO1 Pro187Ser polymorphism and esophageal cancer: a meta-an... BeFree 24213850 Detail
<0.001 Leukemia, Myelocytic, Acute The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymor... BeFree 22976839 Detail
<0.001 lingual-facial-buccal dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.017 schizophrenia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
0.002 Malignant neoplasm of urinary bladder The NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism, leading to p... BeFree 23464456 Detail
<0.001 Malignant neoplasm of stomach stage IV NQO1 rs1800566 is an independent predictive factor of PFS for MGC patients treat... BeFree 25545243 Detail
<0.001 mitral valve stenosis Our results indicate that NQO1 rs1800566 does not have an effect on MS disease r... BeFree 24755231 Detail
0.004 colorectal carcinoma Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism a... BeFree 22306249 Detail
0.006 breast carcinoma The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... BeFree 21329464 Detail
0.002 Carcinoma of bladder The NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism, leading to p... BeFree 23464456 Detail
0.002 Carcinoma of bladder Association between NAD(P)H:quinone oxidoreductase 1 rs1800566 polymorphism and ... BeFree 23873104 Detail
0.001 Adenoma of large intestine Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism a... BeFree 22306249 Detail
0.002 colorectal cancer NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and the risk of l... BeFree 16702380 Detail
0.001 Tardive Dyskinesia (2004) originally reported a significant association between TD and the NADPH qu... BeFree 19778569 Detail
0.004 Carcinoma of bladder The association between NQO1 Pro187Ser polymorphism and bladder cancer susceptib... BeFree 25602258 Detail
<0.001 Squamous cell carcinoma of esophagus quinone oxidoreductase 1 (NQO1) rs1800566 C&gt;T and NQO2 rs2070999 G&gt;A singl... BeFree 24354914 Detail
<0.001 diabetes mellitus No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) ... BeFree 10447260 Detail
<0.001 lingual-facial-buccal dyskinesia Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and mangan... BeFree 18977034 Detail
<0.001 lingual-facial-buccal dyskinesia (2004) originally reported a significant association between TD and the NADPH qu... BeFree 19778569 Detail
0.011 Malignant neoplasm of esophagus NQO1 rs1800566 C&gt;T polymorphism was associated with a decreased risk of esoph... BeFree 24354914 Detail
0.024 leukemia RAS mutations in early age leukaemia modulated by NQO1 rs1800566 (C609T) are ass... BeFree 24571676 Detail
<0.001 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.023 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.133 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.218 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
0.154 Bladder Neoplasm Patients with urinary bladder neoplasms who had been followed up for a 5-year pe... BeFree 17469025 Detail
Annotation

Annotations

DescrptionSourceLinks
The presence of NQO1 C609T SNP (rs1800566) was associated with decreased protein expression and high... CIViC Evidence Detail
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) AND Benzene toxicity, susceptibility to ClinVar Detail
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) AND Leukemia, post-chemotherapy, susceptibility to ClinVar Detail
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) AND Breast cancer, post-chemotherapy poor survival in ClinVar Detail
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) AND Lung carcinoma ClinVar Detail
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) AND NQO1-related disorder ClinVar Detail
Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His... DisGeNET Detail
Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His... DisGeNET Detail
Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of ... DisGeNET Detail
Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of ... DisGeNET Detail
Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) genes in Thai ce... DisGeNET Detail
Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) genes in Thai ce... DisGeNET Detail
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... DisGeNET Detail
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... DisGeNET Detail
The NQO1 Pro187Ser polymorphism and breast cancer susceptibility: evidence from an updated meta-anal... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism is found to have a lower enzymatic ac... DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
Association between NAD(P)H:quinone oxidoreductase 1 rs1800566 polymorphism and risk of bladder canc... DisGeNET Detail
The association between NQO1 Pro187Ser polymorphism and bladder cancer susceptibility: a meta-analys... DisGeNET Detail
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... DisGeNET Detail
Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and risk of colorecta... DisGeNET Detail
The NQO1 rs1800566 polymorphism and risk of bladder cancer: evidence from 6,169 subjects. DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
NQO1 rs1800566 C&gt;T polymorphism was associated with a decreased risk of esophageal cancer in a Ch... DisGeNET Detail
(2004) originally reported a significant association between TD and the NADPH quinine oxidoreductase... DisGeNET Detail
Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a meta-analysis. DisGeNET Detail
Evidence on the association between NQO1 Pro187Ser polymorphism and breast cancer risk in the curren... DisGeNET Detail
The NQO1 Pro187Ser polymorphism and breast cancer susceptibility: evidence from an updated meta-anal... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive facto... DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
(2004) originally reported a significant association between TD and the NADPH quinine oxidoreductase... DisGeNET Detail
Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a meta-analysis. DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and the risk of lung, bladder, and co... DisGeNET Detail
Results of this study strongly suggest that the variant allele of NQO1 (Pro187Ser) may affect indivi... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism is found to have a lower enzymatic ac... DisGeNET Detail
The NQO1 rs1800566 TT genotype was associated with a decreased risk of ESCC in a Chinese population. DisGeNET Detail
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... DisGeNET Detail
quinone oxidoreductase 1 (NQO1) gene C609T polymorphism (rs1800566) and gastric cancer has been wide... DisGeNET Detail
Association between NQO1 Pro187Ser polymorphism and esophageal cancer: a meta-analysis. DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition ... DisGeNET Detail
NQO1 rs1800566 C&gt;T polymorphism was associated with a decreased risk of esophageal cancer in a Ch... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive facto... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
Meta-analysis of the association between NQO1 Pro187Ser polymorphism and colorectal cancer in Asians... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition ... DisGeNET Detail
In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated with slightly increased... DisGeNET Detail
quinone oxidoreductase 1 (NQO1) gene C609T polymorphism (rs1800566) and gastric cancer has been wide... DisGeNET Detail
Association between NQO1 Pro187Ser polymorphism and esophageal cancer: a meta-analysis. DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... DisGeNET Detail
The NQO1 rs1800566 polymorphism and risk of bladder cancer: evidence from 6,169 subjects. DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive facto... DisGeNET Detail
Results of this study strongly suggest that the variant allele of NQO1 (Pro187Ser) may affect indivi... DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk... DisGeNET Detail
NA DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition ... DisGeNET Detail
The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk... DisGeNET Detail
Evidence on the association between NQO1 Pro187Ser polymorphism and breast cancer risk in the curren... DisGeNET Detail
Results from our meta-analyses suggest that the variant NQO1 Pro187Ser genotype may affect individua... DisGeNET Detail
In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated with slightly increased... DisGeNET Detail
The association between NAD(P)H:quinone oxidoreductase 1 (NQO1) gene C609T polymorphism (rs1800566) ... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition ... DisGeNET Detail
The association between NQO1 Pro187Ser polymorphism and urinary system cancer susceptibility: a meta... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive facto... DisGeNET Detail
NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the ris... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated with slightly increased... DisGeNET Detail
Meta-analysis of the association between NQO1 Pro187Ser polymorphism and colorectal cancer in Asians... DisGeNET Detail
In stratified analyses, the NQO1 Pro187Ser variant genotypes were associated with slightly increased... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
The association between NAD(P)H:quinone oxidoreductase 1 (NQO1) gene C609T polymorphism (rs1800566) ... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
Association between NQO1 Pro187Ser polymorphism and esophageal cancer: a meta-analysis. DisGeNET Detail
The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
The NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism, leading to proline- toserine ami... DisGeNET Detail
NQO1 rs1800566 is an independent predictive factor of PFS for MGC patients treated with EOF chemothe... DisGeNET Detail
Our results indicate that NQO1 rs1800566 does not have an effect on MS disease risk. DisGeNET Detail
Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and risk of colorecta... DisGeNET Detail
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... DisGeNET Detail
The NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism, leading to proline- toserine ami... DisGeNET Detail
Association between NAD(P)H:quinone oxidoreductase 1 rs1800566 polymorphism and risk of bladder canc... DisGeNET Detail
Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and risk of colorecta... DisGeNET Detail
NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and the risk of lung, bladder, and co... DisGeNET Detail
(2004) originally reported a significant association between TD and the NADPH quinine oxidoreductase... DisGeNET Detail
The association between NQO1 Pro187Ser polymorphism and bladder cancer susceptibility: a meta-analys... DisGeNET Detail
quinone oxidoreductase 1 (NQO1) rs1800566 C&gt;T and NQO2 rs2070999 G&gt;A single-nucleotide polymor... DisGeNET Detail
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes ... DisGeNET Detail
Additive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismu... DisGeNET Detail
(2004) originally reported a significant association between TD and the NADPH quinine oxidoreductase... DisGeNET Detail
NQO1 rs1800566 C&gt;T polymorphism was associated with a decreased risk of esophageal cancer in a Ch... DisGeNET Detail
RAS mutations in early age leukaemia modulated by NQO1 rs1800566 (C609T) are associated with second-... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800566 dbSNP
Genome
hg19
Position
chr16:69,745,145-69,745,145
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
192.04
Standard deviation of sample read depth (HGVD)
82.32
Number of reference allele (HGVD)
1484
Number of alternative allele (HGVD)
936
Allele Frequency (HGVD)
0.3867768595041322
Gene Symbol (HGVD)
NQO1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1800566
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3701
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6203
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
3892
East Asian Heterozygous Counts (ExAC)
2144
East Asian Homozygous Counts (ExAC)
874
East Asian Allele Frequency (ExAC)
0.4501503585473051
Chromosome Counts in All Race (ExAC)
121132
Allele Counts in All Race (ExAC)
29697
Heterozygous Counts in All Race (ExAC)
21169
Homozygous Counts in All Race (ExAC)
4264
Allele Frequency in All Race (ExAC)
0.24516230228180827
Variant (CIViC) (CIViC Variant)
P187S
Transcript 1 (CIViC Variant)
ENST00000320623.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/402
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