rs61751279, RPE65

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
36 0.882 0.080 1 68446862 splice acceptor variant T/A snv 2.0E-05 1.4E-05 0.700 1.000 6 2004 2015
Retinitis Pigmentosa 20
CUI: C3151086
Disease: Retinitis Pigmentosa 20
27 0.882 0.080 1 68446862 splice acceptor variant T/A snv 2.0E-05 1.4E-05 0.700 1.000 6 2004 2015
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.080 1 68446862 splice acceptor variant T/A snv 2.0E-05 1.4E-05 0.700 0