rs794728683, 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, AUTOSOMAL DOMINANT, 3
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
13 0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06 0.800 1.000 6 2008 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06 0.700 0
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008