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: 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: 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: 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: 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
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: rs4934470
rs4934470 		10 89307681 3 prime UTR variant T/C snv 0.82
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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: 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: 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: 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: 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: 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: 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: 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