rs138947766, 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 11116883 stop gained G/A;C snv 8.0E-06 0.830 1.000 34 1989 2018
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.710 1.000 3 1996 2001
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.700 0
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 1996 1996
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 1999 1999