LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8
Disease: Amyloidosis, familial visceral ×
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: rs121913547
rs121913547 		0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 1993 1993
dbSNP: rs121913548
rs121913548 		1.000 0.080 12 69350224 missense variant G/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1993 1993
dbSNP: rs121913549
rs121913549 		0.882 0.200 12 69350194 missense variant T/A snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906535
rs387906535 		0.925 0.080 12 69350170 missense variant G/C snv 7.0E-06
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906536
rs387906536 		0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0