CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Ciliopathies ×
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: rs137852834
rs137852834 		0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019