rs121908030, 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.
Familial hypercholesterolemia - homozygous
72 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 10 1985 2015
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 10 1990 2012
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0