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: 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: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 1997 2014
dbSNP: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2017
dbSNP: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2017
dbSNP: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 1997 2014
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: rs1799930
rs1799930 		0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1799931
rs1799931 		0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 1997 2014
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: rs1799931
rs1799931 		0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 1997 2014
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: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 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: 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: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 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: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1041983
rs1041983 		0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0521839
Disease: Influenza-like illness
Influenza-like illness 		Infections 0.010 1.000 1 2017 2017