rs61751263, ABCA4

N. diseases: 3
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.
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.080 1 94060760 splice acceptor variant C/T snv 4.2E-06 1.4E-05 0.700 1.000 1 1999 1999
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.882 0.080 1 94060760 splice acceptor variant C/T snv 4.2E-06 1.4E-05 0.700 0
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.882 0.080 1 94060760 splice acceptor variant C/T snv 4.2E-06 1.4E-05 0.700 0