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: 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: rs174546
rs174546
0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
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
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: rs174547
rs174547
0.742 0.240 11 61803311 intron variant T/C snv 0.28
High density lipoprotein measurement
0.800 1.000 4 2009 2019
dbSNP: rs174550
rs174550
0.925 0.160 11 61804006 5 prime UTR variant T/C snv 0.28
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
0.800 1.000 4 2010 2015
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: 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: 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: C0337438
Disease: Glucose measurement
Glucose measurement
0.800 1.000 2 2011 2016
dbSNP: rs174548
rs174548
0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv
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
Low density lipoprotein cholesterol measurement
0.800 1.000 2 2012 2019
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: 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: 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: rs174551
rs174551
11 61806212 5 prime UTR variant T/C snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 4 2018 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: 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: 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