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: rs174556
rs174556 		0.925 0.160 11 61813163 intron variant C/T snv 0.26
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs174551
rs174551 		11 61806212 5 prime UTR variant T/C snv 0.28
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs174566
rs174566 		0.925 0.160 11 61824890 intron variant A/G snv 0.34
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: rs174566
rs174566 		0.925 0.160 11 61824890 intron variant A/G snv 0.34
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
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: rs174567
rs174567 		1.000 0.080 11 61825533 intron variant A/G;T snv
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
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: 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: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
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: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2015 2015
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: 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: 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: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
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: rs174547
rs174547 		0.742 0.240 11 61803311 intron variant T/C snv 0.28
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
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
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: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
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: rs174549
rs174549 		0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26
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: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 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: rs174557
rs174557 		1.000 0.080 11 61813896 intron variant A/C;G;T snv
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