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: rs368088025
rs368088025
RPE65
0.882 0.080 1 68446825 stop gained G/A;T snv 2.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs368088025
rs368088025
RPE65
0.882 0.080 1 68446825 stop gained G/A;T snv 2.4E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		0.700 1.000 1 2016 2016
dbSNP: rs368088025
rs368088025
RPE65
0.882 0.080 1 68446825 stop gained G/A;T snv 2.4E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		0.700 1.000 1 2016 2016