LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 90; N. variants: 17
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs116928232
rs116928232
0.878 0.071 10 89222511 splice region variant C/G,T snp 1.2E-05; 9.1E-04 8.3E-04
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014