Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121965086
rs121965086
LIPA
0.925 0.080 10 89225168 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		0.800 1.000 3 1994 2015
dbSNP: rs1423914418
rs1423914418
LIPA
0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		0.710 1.000 2 1994 2020