rs746118995, LDLR

N. diseases: 5
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 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.810 1.000 9 1997 2019
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 14 1997 2013
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 8 1997 2017
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.700 0