rs121908025, 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 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.860 1.000 37 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.750 1.000 12 1990 2006
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.710 1.000 9 1990 2014
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.700 0
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.040 1.000 4 1996 2001