rs370507566, 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 0.040 1 55057404 missense variant G/A;T snv 4.0E-05; 1.2E-05 0.700 1.000 3 2003 2014
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.882 0.040 1 55057404 missense variant G/A;T snv 4.0E-05; 1.2E-05 0.010 1.000 1 2005 2005
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.882 0.040 1 55057404 missense variant G/A;T snv 4.0E-05; 1.2E-05 0.010 1.000 1 2005 2005