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: 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: 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: 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: 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: rs1412444
rs1412444 		0.851 0.120 10 89243170 intron variant C/T snv 0.37
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1412444
rs1412444 		0.851 0.120 10 89243170 intron variant C/T snv 0.37
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
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: rs2246833
rs2246833 		0.882 0.080 10 89246097 intron variant C/T snv 0.38
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2246833
rs2246833 		0.882 0.080 10 89246097 intron variant C/T snv 0.38
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2297472
rs2297472 		1.000 0.080 10 89225233 splice region variant G/A;C;T snv 0.29; 8.0E-06; 4.0E-05
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs303218
rs303218 		1.000 0.080 10 89392836 intron variant G/A snv 0.18
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs304496
rs304496 		10 89387005 intron variant A/G snv 0.96
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 < 0.001 1 2017 2017
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: 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