Disease: JOUBERT SYNDROME 10 (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: rs863225212
rs863225212 		1.000 0.120 X 13767195 stop gained C/T snv
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015