rs879254464, LDLR

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 0.120 19 11102783 missense variant T/C snv 0.700 1.000 2 2010 2011
Atypical Ductal Breast Hyperplasia
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
17 0.882 0.120 19 11102783 missense variant T/C snv 0.010 1.000 1 2016 2016
Familial hypobetalipoproteinemia
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
24 0.882 0.120 19 11102783 missense variant T/C snv 0.010 1.000 1 2016 2016