CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder) ×
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: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs1226324483
rs1226324483 		1.000 0.040 12 88083083 stop gained G/A snv
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs137852832
rs137852832 		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) 		Eye Diseases 0.700 0
dbSNP: rs137852833
rs137852833 		1.000 0.040 12 88111320 stop gained A/C snv 5.3E-06 2.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs137852834
rs137852834 		0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs376493409
rs376493409 		0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs539400286
rs539400286 		0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs575767207
rs575767207 		0.827 0.280 12 88079112 stop gained G/A;C snv 2.6E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs587783009
rs587783009 		1.000 0.040 12 88118482 splice donor variant C/T snv 1.2E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs587783010
rs587783010 		1.000 0.040 12 88111320 frameshift variant AA/- delins
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs587783016
rs587783016 		0.925 0.200 12 88089157 stop gained G/A snv 4.2E-06
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs587783017
rs587783017 		0.851 0.200 12 88055667 frameshift variant T/-;TT delins
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs760915898
rs760915898 		0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs776645403
rs776645403 		0.776 0.280 12 88125357 stop gained G/A snv 3.8E-05 2.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs797044604
rs797044604 		0.827 0.280 12 88086450 stop gained C/A snv
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs965522059
rs965522059 		0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0