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: rs1170451277
rs1170451277 		0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2011 2012
dbSNP: rs1170451277
rs1170451277 		0.776 0.280 12 88120207 stop gained G/A snv 1.4E-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 2 2011 2012
dbSNP: rs1170451277
rs1170451277 		0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2011 2012
dbSNP: rs376493409
rs376493409 		0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-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 2 2007 2017
dbSNP: rs376493409
rs376493409 		0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2007 2017
dbSNP: rs376493409
rs376493409 		0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2007 2017
dbSNP: rs539400286
rs539400286 		0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2010 2018
dbSNP: rs539400286
rs539400286 		0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-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 2 2010 2018
dbSNP: rs539400286
rs539400286 		0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2010 2018
dbSNP: rs776645403
rs776645403 		0.776 0.280 12 88125357 stop gained G/A snv 3.8E-05 2.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2012 2014
dbSNP: rs776645403
rs776645403 		0.776 0.280 12 88125357 stop gained G/A snv 3.8E-05 2.1E-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 2 2012 2014
dbSNP: rs776645403
rs776645403 		0.776 0.280 12 88125357 stop gained G/A snv 3.8E-05 2.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2012 2014
dbSNP: rs780225183
rs780225183 		0.882 0.200 12 88114536 stop gained G/A snv 6.8E-06 1.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2007 2016
dbSNP: rs780225183
rs780225183 		0.882 0.200 12 88114536 stop gained G/A snv 6.8E-06 1.4E-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 2 2007 2016
dbSNP: rs780225183
rs780225183 		0.882 0.200 12 88114536 stop gained G/A snv 6.8E-06 1.4E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2007 2016
dbSNP: rs137852832
rs137852832 		0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
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 0.700 1.000 1 2015 2015
dbSNP: rs137852832
rs137852832 		0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs137852834
rs137852834 		0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
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 0.700 1.000 1 2015 2015
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
dbSNP: rs267606719
rs267606719 		0.925 0.240 12 88077227 stop gained 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 0.700 1.000 1 2015 2015
dbSNP: rs371525247
rs371525247 		1.000 0.200 12 88071373 stop gained G/A snv 1.2E-05
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 0.700 1.000 1 2015 2015
dbSNP: rs376493409
rs376493409 		0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
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 0.700 1.000 1 2015 2015
dbSNP: rs386834152
rs386834152 		0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs386834152
rs386834152 		0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-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 1 2015 2015
dbSNP: rs386834152
rs386834152 		0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015