rs121909205, 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 1.000 1 94120994 missense variant G/A;T snv 1.6E-05; 3.6E-05 0.800 1.000 21 1997 2017
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 1.000 1 94120994 missense variant G/A;T snv 1.6E-05; 3.6E-05 0.010 1.000 1 1998 1998