LIPG, lipase G, endothelial type, 9388

N. diseases: 62; N. variants: 18
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: rs770572030
rs770572030 		0.827 0.160 18 49581427 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.060 0.833 6 2008 2019
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 0.667 3 2009 2015
dbSNP: rs770572030
rs770572030 		0.827 0.160 18 49581427 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2014 2019
dbSNP: rs770572030
rs770572030 		0.827 0.160 18 49581427 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2014 2019
dbSNP: rs77960347
rs77960347 		18 49583585 missense variant A/C;G snv 4.0E-06; 8.7E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 3 2014 2018
dbSNP: rs12970066
rs12970066 		18 49580782 intron variant C/A;G snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2016 2018
dbSNP: rs149615216
rs149615216 		18 49579658 intron variant C/T snv 5.6E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2017 2018
dbSNP: rs149615216
rs149615216 		18 49579658 intron variant C/T snv 5.6E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs77960347
rs77960347 		18 49583585 missense variant A/C;G snv 4.0E-06; 8.7E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs11082764
rs11082764 		18 49593209 3 prime UTR variant A/G snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11875600
rs11875600 		18 49572816 intron variant A/G snv 0.12
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11875600
rs11875600 		18 49572816 intron variant A/G snv 0.12
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12966382
rs12966382 		18 49559070 upstream gene variant C/T snv 0.11
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12966382
rs12966382 		18 49559070 upstream gene variant C/T snv 0.11
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0339467
Disease: Proliferative retinopathy
Proliferative retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs2000813
rs2000813 		0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs201922257
rs201922257 		18 49569492 missense variant C/T snv 1.7E-04 2.7E-04
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2017 2017
dbSNP: rs201922257
rs201922257 		18 49569492 missense variant C/T snv 1.7E-04 2.7E-04
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2097055
rs2097055 		0.925 0.040 18 49569117 intron variant T/C snv 0.55
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010