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: rs1170451277
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-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: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs281865192
rs281865192
CEP290
0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs376493409
rs376493409
CEP290
0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs539400286
rs539400286
CEP290
0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs575767207
rs575767207
CEP290
0.827 0.280 12 88079112 stop gained G/A;C snv 2.6E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs760915898
rs760915898
CEP290
0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs771454167
rs771454167
CEP290
0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs776645403
rs776645403
CEP290
0.776 0.280 12 88125357 stop gained G/A snv 3.8E-05 2.1E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs797044604
rs797044604
CEP290
0.827 0.280 12 88086450 stop gained C/A snv
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs965522059
rs965522059
CEP290
0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0