rs368657165, LDLR

N. diseases: 7
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 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.820 1.000 33 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.720 1.000 10 1994 2013
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 1.000 8 1999 2016
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 0
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.020 1.000 2 1994 1996