FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Norrie disease ×
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: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0266526
Disease: Norrie disease
Norrie disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs774200714
rs774200714 		1.000 0.160 11 86954909 missense variant G/T snv 3.6E-05 5.6E-05
CUI: C0266526
Disease: Norrie disease
Norrie disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 1997 1997