rs121917745, RPE65

N. diseases: 4
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.
Retinitis Pigmentosa 20
CUI: C3151086
Disease: Retinitis Pigmentosa 20
27 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.800 1.000 11 1998 2018
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
36 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.700 1.000 6 2004 2018
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.020 1.000 2 2004 2015