rs374045590, LDLR

N. diseases: 7
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 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.800 1.000 31 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 1.000 7 1999 2013
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 0
Familial hypercholesterolemia - homozygous
72 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
9 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2019 2019