Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.020 1.000 2 1998 1999
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.010 1.000 1 2004 2004
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2001 2001
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 1999 1999