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: rs62653011
rs62653011
RPE65
0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		0.800 1.000 0 1998 2013
dbSNP: rs62653011
rs62653011
RPE65
0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs62653011
rs62653011
RPE65
0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		0.700 0