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: rs137852832
rs137852832
CEP290
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 		0.710 1.000 12 2006 2018
dbSNP: rs137852832
rs137852832
CEP290
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 		0.700 1.000 12 2006 2016
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 1.000 12 2006 2016
dbSNP: rs137852832
rs137852832
CEP290
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 		0.700 1.000 1 2015 2015
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1833999
Disease: Retinal pigmentary degeneration
Retinal pigmentary degeneration 		0.700 0