rs879255000, LDLR

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.851 0.080 19 11116882 missense variant T/C;G snv 0.820 1.000 33 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.851 0.080 19 11116882 missense variant T/C;G snv 0.720 1.000 12 1996 2012
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.080 19 11116882 missense variant T/C;G snv 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.851 0.080 19 11116882 missense variant T/C;G snv 0.700 0
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.851 0.080 19 11116882 missense variant T/C;G snv 0.020 1.000 2 2009 2012
Familial hypercholesterolemia - homozygous
72 0.851 0.080 19 11116882 missense variant T/C;G snv 0.010 1.000 1 2012 2012