rs62642564, 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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.925 0.040 1 94001068 missense variant C/G;T snv 1.5E-03 0.800 1.000 6 1998 2017
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.925 0.040 1 94001068 missense variant C/G;T snv 1.5E-03 0.700 1.000 1 1998 1998