rs121908040, 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.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.800 1.000 31 1989 2017
Familial hypercholesterolemia - homozygous
72 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 1.000 5 1998 2015
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 1.000 3 1999 2006
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 0