rs281865520, RPE65

N. diseases: 2
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 0.925 0.080 1 68438248 frameshift variant T/-;TT delins 0.700 1.000 2 2010 2016
Retinitis Pigmentosa 20
CUI: C3151086
Disease: Retinitis Pigmentosa 20
27 0.925 0.080 1 68438248 frameshift variant T/-;TT delins 0.700 1.000 2 2010 2016