Disease: JOUBERT SYNDROME 9 (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: rs186264635
rs186264635 		1.000 0.320 4 15502836 missense variant T/C;G snv 4.1E-06; 1.3E-03
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0