LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8
Disease: Hereditary systemic amyloidosis ×
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: rs387906535
rs387906535 		0.925 0.080 12 69350170 missense variant G/C snv 7.0E-06
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2004 2008
dbSNP: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1800973
rs1800973 		0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008