LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Disease: Acid cholesteryl ester hydrolase deficiency, type 2 ×
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 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1423914418
rs1423914418 		0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs771640357
rs771640357 		0.882 0.120 10 89215938 missense variant C/G snv 4.0E-06
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019