LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Coronary heart disease ×
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: rs2228671
rs2228671 		0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.730 1.000 4 2010 2020
dbSNP: rs6511720
rs6511720 		0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.720 1.000 4 2011 2016
dbSNP: rs1035071612
rs1035071612 		0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1249040838
rs1249040838 		0.827 0.120 19 11113699 missense variant G/A snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs544456198
rs544456198 		0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs688
rs688 		0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs72658855
rs72658855 		0.882 0.040 19 11100245 missense variant C/G;T snv 2.3E-03 9.4E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs752596535
rs752596535 		0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs761954844
rs761954844 		0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs879254920
rs879254920 		0.882 0.120 19 11113665 missense variant A/C;G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs879254960
rs879254960 		0.882 0.120 19 11116119 missense variant A/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006