rs61751281, 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 68446837 missense variant C/T snv 2.4E-05 2.8E-05 0.700 1.000 14 1997 2017
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 1 68446837 missense variant C/T snv 2.4E-05 2.8E-05 0.700 0