rs200727689, LDLR

N. diseases: 5
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 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.810 1.000 32 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.710 1.000 16 1993 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 12 1997 2017
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.700 0