LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8
Disease: Amyloidosis, Familial ×
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: rs387906536
rs387906536 		0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2002 2019
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1363507110
rs1363507110 		1.000 0.080 12 69350201 missense variant T/C snv 1.2E-05
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010