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: rs28940315
rs28940315
GPHN ; RDH12
0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 4 2004 2015
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0