rs3112831, ABCA4

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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 1.000 0.080 1 94078678 missense variant T/C;G snv 0.26 0.26 0.010 1.000 1 2017 2017
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 1.000 0.080 1 94078678 missense variant T/C;G snv 0.26 0.26 0.010 1.000 1 2017 2017