NAT1, N-acetyltransferase 1, 9

N. diseases: 122; N. variants: 9
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4921581
rs4921581
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Children wildtype for rs4921581 had increasing asthma risk with increasing hair cotinine level, whereas those carrying the <i>NAT1</i> minor allele had an increased risk of asthma regardless of cotinine level. 31809667 2019
dbSNP: rs15561
rs15561
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Rs1057126 (1088 T > A) and rs15561 (1095 C > A) were determined in 412 bladder cancer patients and 415 controls without a known history of malignancies. 28696911 2017
dbSNP: rs56318881
rs56318881
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE WES in the family identified the partner and localizer of BRCA2 (PALB2) c.419delA truncating mutation carried by the proband, her father, and her paternal uncle (all affected with BC) and the N-acetyltransferase 1 (NAT1) c.97C>T nonsense mutation carried by the proband's maternal aunt. 27648926 2017
dbSNP: rs56318881
rs56318881
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE WES in the family identified the partner and localizer of BRCA2 (PALB2) c.419delA truncating mutation carried by the proband, her father, and her paternal uncle (all affected with BC) and the N-acetyltransferase 1 (NAT1) c.97C>T nonsense mutation carried by the proband's maternal aunt. 27648926 2017
dbSNP: rs56379106
rs56379106
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C1827377
Disease:
Slow acetylator due to N-acetyltransferase enzyme variant
0.010 GeneticVariation BEFREE Coincidently the N245I change displayed a similar free energy landscape profile to the known R64W amino acid substitution (slow acetylator), while the R242M displayed a similar profile to the published variant, I263V (proposed fast acetylator), and the wild type protein structure. 28628859 2017
dbSNP: rs56379106
rs56379106
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C1827820
Disease:
Fast acetylator due to N-acetyltransferase enzyme variant
0.010 GeneticVariation BEFREE Coincidently the N245I change displayed a similar free energy landscape profile to the known R64W amino acid substitution (slow acetylator), while the R242M displayed a similar profile to the published variant, I263V (proposed fast acetylator), and the wild type protein structure. 28628859 2017
dbSNP: rs72554611
rs72554611
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C1827377
Disease:
Slow acetylator due to N-acetyltransferase enzyme variant
0.010 GeneticVariation BEFREE Coincidently the N245I change displayed a similar free energy landscape profile to the known R64W amino acid substitution (slow acetylator), while the R242M displayed a similar profile to the published variant, I263V (proposed fast acetylator), and the wild type protein structure. 28628859 2017
dbSNP: rs72554611
rs72554611
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C1827820
Disease:
Fast acetylator due to N-acetyltransferase enzyme variant
0.010 GeneticVariation BEFREE Coincidently the N245I change displayed a similar free energy landscape profile to the known R64W amino acid substitution (slow acetylator), while the R242M displayed a similar profile to the published variant, I263V (proposed fast acetylator), and the wild type protein structure. 28628859 2017
dbSNP: rs5030839
rs5030839
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C1827820
Disease:
Fast acetylator due to N-acetyltransferase enzyme variant
0.010 GeneticVariation BEFREE We identified 'less credible' associations (higher heterogeneity, lower statistical power, BFDP > 0.02) with a further four variants of four independent genes: MTHFR c.677C>T p.A222V (rs1801133), TP53 c.215C>G p.R72P (rs1042522), NQO1 c.559C>T p.P187S (rs1800566), and NAT1 alleles imputed as fast acetylator genotypes. 26451011 2016
dbSNP: rs6586714
rs6586714
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C3888555
Disease:
NAT1 polymorphism
0.010 GeneticVariation BEFREE An interaction was observed between 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx) intake and the NAT1 polymorphism rs6586714 in the adenoma study (P(interaction) = 0.001). 22552404 2012
dbSNP: rs6586714
rs6586714
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C0001430
Disease:
Adenoma
0.010 GeneticVariation BEFREE An interaction was observed between 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx) intake and the NAT1 polymorphism rs6586714 in the adenoma study (P(interaction) = 0.001). 22552404 2012
dbSNP: rs778415469
rs778415469
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR1 3435T>C; NAT1 1088T>A and 1095A>C; GSTA2 S112T; GSTM3 V224I and MTHFR A222V had altered risk of developing lung cancer. 17259654 2007
dbSNP: rs778415469
rs778415469
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR1 3435T>C; NAT1 1088T>A and 1095A>C; GSTA2 S112T; GSTM3 V224I and MTHFR A222V had altered risk of developing lung cancer. 17259654 2007
dbSNP: rs778415469
rs778415469
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR1 3435T>C; NAT1 1088T>A and 1095A>C; GSTA2 S112T; GSTM3 V224I and MTHFR A222V had altered risk of developing lung cancer. 17259654 2007
dbSNP: rs370302501
rs370302501
Entrez Id: 9
Gene Symbol: NAT1
NAT1
CUI: C1302401
Disease:
Adenoma of large intestine
0.010 GeneticVariation BEFREE A genetic polymorphism leads to an Arg213His substitution, thereby decreasing enzyme activity and stability and might thus modify the association between smoking and colorectal adenomas. 14618622 2004