Source: BEFREE

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: rs116928232
rs116928232
LIPA
0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease 		0.730 1.000 3 1993 2019
dbSNP: rs770407719
rs770407719
LIPA
0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease 		0.010 1.000 1 1995 1995