rs770074196, LIPA

N. diseases: 1
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 1.000 0.080 10 89223822 frameshift variant A/- delins 1.4E-05 0.700 1.000 2 1999 2014