rs879254764, 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.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.360 19 11110752 frameshift variant G/- delins 0.700 1.000 1 2010 2010
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.360 19 11110752 frameshift variant G/- delins 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.827 0.360 19 11110752 frameshift variant G/- delins 0.700 0
Barber Say syndrome
CUI: C1319466
Disease: Barber Say syndrome
4 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014
Bernard-Soulier Syndrome
CUI: C0005129
Disease: Bernard-Soulier Syndrome
23 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014
Brooke-Spiegler syndrome
CUI: C1857941
Disease: Brooke-Spiegler syndrome
8 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014