LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
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: rs13500
rs13500 		1.000 0.080 10 89213735 3 prime UTR variant G/A snv 0.11
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs772684869
rs772684869 		1.000 0.080 10 89214958 missense variant A/G snv 4.0E-05 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2014 2019
dbSNP: rs776472526
rs776472526 		1.000 0.080 10 89215004 missense variant C/T snv 8.0E-06 3.5E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 1999 2015
dbSNP: rs770407719
rs770407719 		0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs770407719
rs770407719 		0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs770407719
rs770407719 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs771640357
rs771640357 		0.882 0.120 10 89215938 missense variant C/G snv 4.0E-06
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs771640357
rs771640357 		0.882 0.120 10 89215938 missense variant C/G snv 4.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
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
dbSNP: rs1554864404
rs1554864404 		1.000 0.080 10 89215944 stop gained G/T snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554865199
rs1554865199 		1.000 0.080 10 89222509 splice donor variant A/G snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1564751995
rs1564751995 		1.000 0.080 10 89222510 splice donor variant C/T snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs116928232
rs116928232 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.740 1.000 13 1993 2019
dbSNP: rs116928232
rs116928232 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.730 1.000 5 1993 2019
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: rs116928232
rs116928232 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs116928232
rs116928232 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C2675627
Disease: Acholic stool
Acholic stool 		Digestive System Diseases 0.700 0
dbSNP: rs116928232
rs116928232 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116928232
rs116928232 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0042782
Disease: Visceromegaly
Visceromegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs116928232
rs116928232 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0042963
Disease: Vomiting
Vomiting 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs116928232
rs116928232 		0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554865206
rs1554865206 		1.000 0.080 10 89222513 stop gained G/A snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1996 1996
dbSNP: rs1554865214
rs1554865214 		1.000 0.080 10 89222522 missense variant G/A snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1994 2015
dbSNP: rs1204744283
rs1204744283 		1.000 0.080 10 89223683 splice donor variant C/G;T snv 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267607218
rs267607218 		0.925 0.080 10 89223710 stop gained C/A snv 4.0E-06 3.5E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 1996 2015