rs41292677, 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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03 0.800 1.000 5 1997 2017
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03 0.700 1.000 1 1997 1997
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03 0.700 1.000 1 2019 2019