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: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2010 2019
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 3 2008 2013
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2010 2012
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.710 1.000 2 2011 2017
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2012
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2008 2008
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2013 2013
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: 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: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count 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: 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: 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: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174548
rs174548 		0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs174557
rs174557 		1.000 0.080 11 61813896 intron variant A/C;G;T snv
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: 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
dbSNP: rs174567
rs174567 		1.000 0.080 11 61825533 intron variant A/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: 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: rs174567
rs174567 		1.000 0.080 11 61825533 intron variant A/G;T snv
CUI: C0523829
Disease: Phosphatidylcholine measurement
Phosphatidylcholine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs174567
rs174567 		1.000 0.080 11 61825533 intron variant A/G;T snv
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: rs174568
rs174568 		1.000 0.080 11 61826344 missense variant C/A;T snv 0.37
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: rs174568
rs174568 		1.000 0.080 11 61826344 missense variant C/A;T snv 0.37
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012