rs141502002, PCSK9

N. diseases: 3
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 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.700 0
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.010 1.000 1 2005 2005
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.010 1.000 1 2005 2005