LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 90; N. variants: 17
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
1.000 0.071 10 89225168 missense variant A/G snp 8.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 2 1994 1996
dbSNP: rs116928232
rs116928232
0.878 0.071 10 89222511 splice region variant C/G,T snp 1.2E-05; 9.1E-04 8.3E-04
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 10 1993 2014
dbSNP: rs267607218
rs267607218
1.000 0.071 10 89223710 stop gained C/A snp 4.0E-06 3.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 1994 2012
dbSNP: rs587778878
rs587778878
1.000 0.071 10 89228368 missense variant C/A snp 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 3 1993 2011
dbSNP: rs756016704
rs756016704
1.000 0.071 10 89228230 frameshift variant TG/T in-del 2.0E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1 2014 2014
dbSNP: rs780495201
rs780495201
0.923 0.071 10 89225172 frameshift variant C/CA in-del 1.2E-05 3.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1 1994 1994
dbSNP: rs797045094
rs797045094
1.000 0.071 10 89228375 stop gained G/A,T snp 4.0E-06
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1 2013 2013
dbSNP: rs762794648
rs762794648
1.000 0.071 10 89223769 missense variant T/C snp 4.0E-06 3.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs770407719
rs770407719
0.923 0.071 10 89215021 missense variant G/A snp 1.6E-05 1.3E-04
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: rs776472526
rs776472526
1.000 0.071 10 89215004 missense variant C/T snp 8.0E-06 3.2E-05
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012