Source: CLINVAR

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: rs61753038
rs61753038
ABCA4
0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 2003 2019
dbSNP: rs61753038
rs61753038
ABCA4
0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 0
dbSNP: rs61753038
rs61753038
ABCA4
0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		0.700 0
dbSNP: rs61753038
rs61753038
ABCA4
0.851 0.080 1 94005470 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0