Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 1.000 2 2010 2011
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2010 2011
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2010 2011
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2007 2007
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.700 0
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.700 0
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs386834158
rs386834158
CEP290
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 		0.700 0
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		0.700 0
dbSNP: rs386834158
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys 		0.700 0