CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
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: rs62635288
rs62635288 		0.882 0.240 12 88141287 missense variant C/A snv
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 6 2006 2015
dbSNP: rs137852832
rs137852832 		0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.710 1.000 13 2006 2018
dbSNP: rs137852832
rs137852832 		0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 12 2006 2016
dbSNP: rs137852832
rs137852832 		0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 12 2006 2016
dbSNP: rs62638179
rs62638179 		0.882 0.200 12 88083077 stop gained C/A snv 3.6E-05 6.3E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 5 2006 2017
dbSNP: rs62638179
rs62638179 		0.882 0.200 12 88083077 stop gained C/A snv 3.6E-05 6.3E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2006 2017
dbSNP: rs62638179
rs62638179 		0.882 0.200 12 88083077 stop gained C/A snv 3.6E-05 6.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 5 2006 2017
dbSNP: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2006 2016
dbSNP: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 5 2006 2016
dbSNP: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 5 2006 2016
dbSNP: rs764309755
rs764309755 		0.882 0.200 12 88083080 frameshift variant TT/- delins 2.8E-05 2.8E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2007 2016
dbSNP: rs764309755
rs764309755 		0.882 0.200 12 88083080 frameshift variant TT/- delins 2.8E-05 2.8E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 5 2007 2016
dbSNP: rs764309755
rs764309755 		0.882 0.200 12 88083080 frameshift variant TT/- delins 2.8E-05 2.8E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 5 2007 2016
dbSNP: rs965522059
rs965522059 		0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2006 2011
dbSNP: rs965522059
rs965522059 		0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 5 2006 2011
dbSNP: rs965522059
rs965522059 		0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 5 2006 2011
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2006 2012
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 4 2006 2012
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2006 2012
dbSNP: rs747835249
rs747835249 		0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2006 2013
dbSNP: rs747835249
rs747835249 		0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 4 2006 2013
dbSNP: rs747835249
rs747835249 		0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2006 2013
dbSNP: rs756302731
rs756302731 		0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2007 2016
dbSNP: rs756302731
rs756302731 		0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 4 2007 2016
dbSNP: rs756302731
rs756302731 		0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2007 2016