rs730882109, LDLR

N. diseases: 5
Source: CLINVAR ×
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.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1340 0.882 0.080 19 11116900 missense variant C/G;T snv 4.0E-06; 1.1E-04 0.700 1.000 14 1994 2019
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
58 0.882 0.080 19 11116900 missense variant C/G;T snv 4.0E-06; 1.1E-04 0.700 1.000 5 1994 2019
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.882 0.080 19 11116900 missense variant C/G;T snv 4.0E-06; 1.1E-04 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
519 0.882 0.080 19 11116900 missense variant C/G;T snv 4.0E-06; 1.1E-04 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.882 0.080 19 11116900 missense variant C/G;T snv 4.0E-06; 1.1E-04 0.700 0