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: rs1801269
rs1801269
ABCA4
0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.810 1.000 6 1997 2017
dbSNP: rs1801269
rs1801269
ABCA4
0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.800 0
dbSNP: rs1801269
rs1801269
ABCA4
0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 0
dbSNP: rs1801269
rs1801269
ABCA4
0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		0.700 0