rs121908031, LDLR

N. diseases: 6
Source: CLINVAR ×
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
1340 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.720 1.000 15 1964 2015
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
519 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.720 1.000 0 2009 2012
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
58 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.700 1.000 9 1987 2018
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
38 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.700 0