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: rs1051338
rs1051338 		0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1051338
rs1051338 		0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1051338
rs1051338 		0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1051338
rs1051338 		0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1051338
rs1051338 		0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1051338
rs1051338 		0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1051338
rs1051338 		0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1051339
rs1051339 		0.882 0.040 10 89247582 missense variant C/T snv 9.5E-02 0.13
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1051339
rs1051339 		0.882 0.040 10 89247582 missense variant C/T snv 9.5E-02 0.13
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1051339
rs1051339 		0.882 0.040 10 89247582 missense variant C/T snv 9.5E-02 0.13
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11203042
rs11203042 		1.000 0.080 10 89229352 intron variant T/A;C snv
CUI: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 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: 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: 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: rs121965086
rs121965086 		0.925 0.080 10 89225168 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1994 2015
dbSNP: rs121965086
rs121965086 		0.925 0.080 10 89225168 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121965087
rs121965087 		1.000 0.080 10 89245776 stop gained G/C snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1332328
rs1332328 		10 89251701 intron variant C/T snv 0.38
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018