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: 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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2012 2013
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: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 7 2010 2019
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 7 2008 2019
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 6 2009 2019
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2009 2013
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2012 2013
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2014 2015
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 0.500 2 2017 2018
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2018 2018
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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: 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: rs174546
rs174546 		0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
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