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: 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: rs1412444
rs1412444 		0.851 0.120 10 89243170 intron variant C/T snv 0.37
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.710 1.000 3 2013 2018
dbSNP: rs1412444
rs1412444 		0.851 0.120 10 89243170 intron variant C/T snv 0.37
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.800 1.000 2 2011 2011
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: rs1554866097
rs1554866097 		1.000 0.080 10 89228345 missense variant A/T snv
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: rs2246942
rs2246942 		0.925 0.040 10 89245129 intron variant A/C;G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 2 2017 2018
dbSNP: rs2246942
rs2246942 		0.925 0.040 10 89245129 intron variant A/C;G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.710 1.000 2 2011 2013
dbSNP: rs770074196
rs770074196 		1.000 0.080 10 89223822 frameshift variant A/- delins 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1999 2014
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: 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
dbSNP: rs1332329
rs1332329 		1.000 0.080 10 89243662 intron variant A/C snv 0.38
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2015 2015
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: rs1412445
rs1412445 		10 89243047 intron variant C/T snv 0.37
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1457072724
rs1457072724 		1.000 0.080 10 89228209 stop gained C/T snv 7.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2012 2012
dbSNP: rs1554866004
rs1554866004 		1.000 0.080 10 89228199 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 1.000 1 2018 2018
dbSNP: rs2243547
rs2243547 		10 89250722 intron variant A/C snv 0.26
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2243547
rs2243547 		10 89250722 intron variant A/C snv 0.26
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
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: 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: 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: rs2246941
rs2246941 		10 89245159 intron variant C/A;T snv
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2246941
rs2246941 		10 89245159 intron variant C/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2250644
rs2250644 		10 89249122 intron variant C/T snv 0.38
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2016 2016