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: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.800 1.000 1 2010 2010
dbSNP: rs174549
rs174549 		0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26
CUI: C0018810
Disease: heart rate
heart rate 		0.800 1.000 1 2013 2013
dbSNP: rs174550
rs174550 		0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index 		0.800 1.000 1 2012 2012
dbSNP: rs28456
rs28456 		0.925 0.120 11 61822009 intron variant A/C;G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.710 1.000 1 2018 2018
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: rs174544
rs174544 		11 61800281 3 prime UTR variant C/A snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs174544
rs174544 		11 61800281 3 prime UTR variant C/A snv 0.25
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174545
rs174545 		1.000 0.080 11 61801834 3 prime UTR variant C/A;G snv 0.28
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174545
rs174545 		1.000 0.080 11 61801834 3 prime UTR variant C/A;G snv 0.28
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2015 2015
dbSNP: rs174545
rs174545 		1.000 0.080 11 61801834 3 prime UTR variant C/A;G snv 0.28
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174545
rs174545 		1.000 0.080 11 61801834 3 prime UTR variant C/A;G snv 0.28
CUI: C2316832
Disease: Arachidonic acid measurement
Arachidonic acid measurement 		0.700 1.000 1 2015 2015
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2019 2019
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
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: 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
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular 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: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016