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: rs968567
rs968567 		0.851 0.240 11 61828092 intron variant C/T snv 0.11
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.810 1.000 4 2009 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: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total 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: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides 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: rs174556
rs174556 		0.925 0.160 11 61813163 intron variant C/T snv 0.26
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2012 2013
dbSNP: rs12226877
rs12226877 		0.925 0.040 11 61824435 intron variant G/A snv 0.14
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs12226877
rs12226877 		0.925 0.040 11 61824435 intron variant G/A snv 0.14
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
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
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2016 2016