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: rs62636271
rs62636271
CRB1
0.882 0.080 1 197427880 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 0 2001 2017
dbSNP: rs62636271
rs62636271
CRB1
0.882 0.080 1 197427880 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.700 0
dbSNP: rs62636271
rs62636271
CRB1
0.882 0.080 1 197427880 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0