rs1423914418, LIPA

N. diseases: 2
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 0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 7.0E-06 0.710 1.000 3 1994 2020
Acid cholesteryl ester hydrolase deficiency, type 2
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
3 0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020