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: 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: 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
dbSNP: rs1060499781
rs1060499781 		0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2006 2010
dbSNP: rs1060499781
rs1060499781 		0.851 0.240 12 88058846 splice region variant -/CC delins
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 3 2006 2010
dbSNP: rs1060499781
rs1060499781 		0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs1192112844
rs1192112844 		0.882 0.200 12 88118744 splice acceptor variant C/A;T snv 4.2E-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 3 2006 2010
dbSNP: rs1192112844
rs1192112844 		0.882 0.200 12 88118744 splice acceptor variant C/A;T snv 4.2E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs1192112844
rs1192112844 		0.882 0.200 12 88118744 splice acceptor variant C/A;T snv 4.2E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2006 2010
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: rs1555225566
rs1555225566 		0.882 0.200 12 88129718 frameshift variant T/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2013 2013
dbSNP: rs1555225566
rs1555225566 		0.882 0.200 12 88129718 frameshift variant T/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1555225566
rs1555225566 		0.882 0.200 12 88129718 frameshift variant T/- delins
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 2013 2013
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: rs35110721
rs35110721 		1.000 0.080 12 88123783 intron variant -/T delins
CUI: C2076600
Disease: Influenza due to Influenza A virus subtype H1N1
Influenza due to Influenza A virus subtype H1N1 		Infections; Respiratory Tract 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