rs116928232, LIPA

N. diseases: 9
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.
Wolman Disease
CUI: C0043208
Disease: Wolman Disease
35 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.740 1.000 13 1993 2019
Cholesterol Ester Storage Disease
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
5 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.730 1.000 5 1993 2019
Acholic stool
CUI: C2675627
Disease: Acholic stool
1 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
Visceromegaly
CUI: C0042782
Disease: Visceromegaly
1 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
Vomiting
CUI: C0042963
Disease: Vomiting
23 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
Acid cholesteryl ester hydrolase deficiency, type 2
3 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.010 1.000 1 2019 2019
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.010 1.000 1 2013 2013