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: 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: 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: 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: rs587778878
rs587778878 		1.000 0.080 10 89228368 missense variant C/A snv 8.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 7 1990 2013
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: rs1423914418
rs1423914418 		0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 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 3 1994 2020
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
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: 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: 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: 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: rs779712562
rs779712562 		1.000 0.080 10 89245712 stop gained G/A snv 2.0E-05 3.5E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1997 2015
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: rs747508159
rs747508159 		1.000 0.080 10 89223832 splice acceptor variant T/A;C snv 4.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1996 2015
dbSNP: rs749180806
rs749180806 		1.000 0.080 10 89228372 missense variant G/A snv 8.0E-06 2.1E-05
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: rs767688436
rs767688436 		1.000 0.080 10 89228334 missense variant G/C snv 1.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2015 2019
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: 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: 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: 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