rs780495201, 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 89225172 frameshift variant -/A delins 1.2E-05 1.4E-05 0.700 1.000 1 1994 1994
Cholesterol Ester Storage Disease
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
5 0.925 0.080 10 89225172 frameshift variant -/A delins 1.2E-05 1.4E-05 0.700 0