Disease: Joubert syndrome 1 ×
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: rs757936530
rs757936530 		1.000 0.160 9 136434820 missense variant C/T snv 4.1E-06 1.4E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2009 2017