FADS1, fatty acid desaturase 1, 3992

N. diseases: 125; N. variants: 32
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: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.830 1.000 5 2011 2019
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2009 2019
dbSNP: rs174550
rs174550 		0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 4 2010 2015
dbSNP: rs174551
rs174551 		11 61806212 5 prime UTR variant T/C snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 4 2018 2019
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2009 2019
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2016 2019
dbSNP: rs174550
rs174550 		0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2012 2019
dbSNP: rs174551
rs174551 		11 61806212 5 prime UTR variant T/C snv 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.800 1.000 2 2011 2016
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.800 1.000 2 2012 2016
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2010 2013
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.800 1.000 2 2011 2016
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2015 2019
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2019 2019
dbSNP: rs174550
rs174550 		0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2017 2018
dbSNP: rs174550
rs174550 		0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2012 2013
dbSNP: rs174550
rs174550 		0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2017 2018
dbSNP: rs174550
rs174550 		0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2017 2019
dbSNP: rs174551
rs174551 		11 61806212 5 prime UTR variant T/C snv 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs174551
rs174551 		11 61806212 5 prime UTR variant T/C snv 0.28
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019
dbSNP: rs174555
rs174555 		11 61812288 intron variant T/C snv 0.26
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2012 2013
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2009 2009
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2016 2016