Source: ALL

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: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 24 1997 2017
dbSNP: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.700 1.000 1 2019 2019
dbSNP: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.700 1.000 1 2019 2019
dbSNP: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 1.000 1 2019 2019
dbSNP: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		0.700 0
dbSNP: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 0
dbSNP: rs61750641
rs61750641
ABCA4
0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0