rs137929307, LDLR

N. diseases: 12
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 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.810 1.000 1 2009 2009
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.710 1.000 27 1992 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 1.000 18 1992 2016
Arcus Senilis
CUI: C0003742
Disease: Arcus Senilis
23 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
Atypical Ductal Breast Hyperplasia
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
17 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.010 1.000 1 2010 2010
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.010 1.000 1 2005 2005