LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Atherosclerosis ×
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: rs6511720
rs6511720 		0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs879254925
rs879254925 		0.790 0.120 19 11113680 missense variant G/T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2010 2013
dbSNP: rs1249040838
rs1249040838 		0.827 0.120 19 11113699 missense variant G/A snv 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs759003763
rs759003763 		0.827 0.120 19 11113585 missense variant G/A snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs879254582
rs879254582 		0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs879254693
rs879254693 		0.807 0.160 19 11107424 missense variant T/A;C;G snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs879254840
rs879254840 		0.827 0.120 19 11113322 missense variant A/G snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs879254850
rs879254850 		0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015