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: rs780495201
rs780495201 		0.925 0.080 10 89225172 frameshift variant -/A delins 1.2E-05 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 1 1994 1994
dbSNP: rs780495201
rs780495201 		0.925 0.080 10 89225172 frameshift variant -/A delins 1.2E-05 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: rs753796180
rs753796180 		1.000 0.080 10 89228277 frameshift variant -/GG ins 8.0E-06 1.4E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: 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: 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: rs1554865576
rs1554865576 		1.000 0.080 10 89225111 stop gained A/C snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554869292
rs1554869292 		1.000 0.080 10 89247536 splice donor variant A/C snv
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: rs2250781
rs2250781 		1.000 0.040 10 89247713 5 prime UTR variant C/A snv 0.59
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs267607218
rs267607218 		0.925 0.080 10 89223710 stop gained C/A snv 4.0E-06 3.5E-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: 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: 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