CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Congenital anomaly of the kidney ×
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: rs386834158
rs386834158 		0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs773386777
rs773386777 		1.000 0.160 12 88093977 splice acceptor variant T/C snv
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0