FASN, fatty acid synthase, 2194

N. diseases: 245; N. variants: 6
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: rs2228305
rs2228305 		0.925 0.120 17 82084916 missense variant C/T snv 4.1E-02 4.5E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2004 2009
dbSNP: rs17848939
rs17848939 		1.000 0.080 17 82085473 intron variant C/G;T snv 5.0E-06; 0.45
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs200842352
rs200842352 		1.000 0.040 17 82079563 missense variant C/A snv 6.2E-04 1.7E-04
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2228305
rs2228305 		0.925 0.120 17 82084916 missense variant C/T snv 4.1E-02 4.5E-02
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs2228305
rs2228305 		0.925 0.120 17 82084916 missense variant C/T snv 4.1E-02 4.5E-02
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs2229422
rs2229422 		1.000 0.080 17 82085863 synonymous variant A/C;G;T snv 0.25 0.29
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2229425
rs2229425 		1.000 0.080 17 82083590 synonymous variant G/A snv 0.10 0.10
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4246444
rs4246444 		0.882 0.080 17 82081076 intron variant T/G snv 0.75
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4246444
rs4246444 		0.882 0.080 17 82081076 intron variant T/G snv 0.75
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4246444
rs4246444 		0.882 0.080 17 82081076 intron variant T/G snv 0.75
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014