LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Cardiovascular Diseases ×
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: rs688
rs688 		0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.710 1.000 2 2008 2014
dbSNP: rs397509365
rs397509365 		0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 0.500 2 2002 2005
dbSNP: rs544456198
rs544456198 		0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs752596535
rs752596535 		0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs759003763
rs759003763 		0.827 0.120 19 11113585 missense variant G/A snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs879254850
rs879254850 		0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs879254925
rs879254925 		0.790 0.120 19 11113680 missense variant G/T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2007 2007