rs970575319, 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 55052408 missense variant A/T snv 0.700 0
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.882 0.040 1 55052408 missense variant A/T snv 0.010 1.000 1 2007 2007
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
22 0.882 0.040 1 55052408 missense variant A/T snv 0.010 1.000 1 2007 2007