NAT2, N-acetyltransferase 2, 10

N. diseases: 311; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2005 2005
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		0.010 1.000 1 2017 2017
dbSNP: rs1208
rs1208 		0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06
CUI: C3203670
Disease: NAT2 polymorphism
NAT2 polymorphism 		0.010 1.000 1 2012 2012
dbSNP: rs1799929
rs1799929 		0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C3203670
Disease: NAT2 polymorphism
NAT2 polymorphism 		0.010 1.000 1 2012 2012
dbSNP: rs1799929
rs1799929 		0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2006 2006
dbSNP: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2006 2006
dbSNP: rs1799931
rs1799931 		0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C3203670
Disease: NAT2 polymorphism
NAT2 polymorphism 		0.010 1.000 1 2012 2012
dbSNP: rs1799931
rs1799931 		0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2006 2006
dbSNP: rs1801280
rs1801280 		0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2019 2019
dbSNP: rs1961456
rs1961456 		8 18398199 intron variant A/G snv 0.33
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1961456
rs1961456 		8 18398199 intron variant A/G snv 0.33
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1208
rs1208 		0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2015 2019
dbSNP: rs1208
rs1208 		0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1208
rs1208 		0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799931
rs1799931 		0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1799931
rs1799931 		0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2009 2013
dbSNP: rs1799931
rs1799931 		0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2010 2012
dbSNP: rs1801280
rs1801280 		0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2010 2012
dbSNP: rs1565684
rs1565684 		1.000 0.080 8 18389154 upstream gene variant A/C;G snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1799929
rs1799929 		0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1799929
rs1799929 		0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1799929
rs1799929 		0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009