LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Myocardial Ischemia ×
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: rs544456198
rs544456198 		0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs752596535
rs752596535 		0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2003 2003