NAT1, N-acetyltransferase 1, 9

N. diseases: 122; N. variants: 9
Source: BEFREE ×
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: rs15561
rs15561 		8 18223142 3 prime UTR variant A/C snv 0.64
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs370302501
rs370302501 		1.000 0.080 8 18222499 missense variant G/A;C snv 4.4E-05; 4.0E-06
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs4921581
rs4921581 		1.000 0.080 8 18213586 intron variant A/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5030839
rs5030839 		1.000 8 18222606 stop gained C/T snv 2.4E-03 2.1E-03
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2016 2016
dbSNP: rs56318881
rs56318881 		0.925 0.080 8 18222144 stop gained C/T snv 3.6E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs56318881
rs56318881 		0.925 0.080 8 18222144 stop gained C/T snv 3.6E-05 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs56379106
rs56379106 		0.925 8 18222237 missense variant C/T snv 3.3E-03 3.7E-03
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2017 2017
dbSNP: rs56379106
rs56379106 		0.925 8 18222237 missense variant C/T snv 3.3E-03 3.7E-03
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2017 2017
dbSNP: rs6586714
rs6586714 		1.000 8 18216433 intron variant A/G snv 0.84
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs6586714
rs6586714 		1.000 8 18216433 intron variant A/G snv 0.84
CUI: C3888555
Disease: NAT1 polymorphism
NAT1 polymorphism 		0.010 1.000 1 2012 2012
dbSNP: rs72554611
rs72554611 		0.925 8 18222834 missense variant A/G snv 2.1E-05
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2017 2017
dbSNP: rs72554611
rs72554611 		0.925 8 18222834 missense variant A/G snv 2.1E-05
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2017 2017
dbSNP: rs778415469
rs778415469 		0.882 0.080 8 18222385 missense variant C/G snv 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs778415469
rs778415469 		0.882 0.080 8 18222385 missense variant C/G snv 8.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs778415469
rs778415469 		0.882 0.080 8 18222385 missense variant C/G snv 8.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007