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: rs1800552
rs1800552
ABCA4
0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 8 1997 2019
dbSNP: rs1800552
rs1800552
ABCA4
0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1800552
rs1800552
ABCA4
0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0
dbSNP: rs1800552
rs1800552
ABCA4
0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 < 0.001 1 2018 2018