Disease: Goldmann-Favre syndrome (disorder) ×
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: rs28937873
rs28937873 		0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 15 2000 2017
dbSNP: rs756678889
rs756678889 		1.000 0.160 15 71814066 missense variant A/G snv 8.1E-06 7.0E-06
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009