rs62653011, 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 0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05 0.800 1.000 6 1998 2013
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05 0.700 1.000 1 2019 2019
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
36 0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05 0.010 1.000 1 2002 2002