rs879254768, LDLR

N. diseases: 4
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 19 11110757 splice donor variant -/ATGCGAAG delins 0.700 1.000 1 2002 2002
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.882 0.080 19 11110757 splice donor variant -/ATGCGAAG delins 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.882 0.080 19 11110757 splice donor variant -/ATGCGAAG delins 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.882 0.080 19 11110757 splice donor variant -/ATGCGAAG delins 0.700 0