rs879254597, 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 0.851 0.120 19 11105528 stop gained G/A;T snv 0.720 1.000 11 1989 2012
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.851 0.120 19 11105528 stop gained G/A;T snv 0.020 1.000 2 1999 2004
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.851 0.120 19 11105528 stop gained G/A;T snv 0.010 1.000 1 2004 2004
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.851 0.120 19 11105528 stop gained G/A;T snv 0.010 1.000 1 2018 2018