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: rs61751406
rs61751406
ABCA4
0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 0 1997 2014
dbSNP: rs61751406
rs61751406
ABCA4
0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 1999 1999
dbSNP: rs61751406
rs61751406
ABCA4
0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C0423414
Disease: Retinal flecking
Retinal flecking 		0.700 0
dbSNP: rs61751406
rs61751406
ABCA4
0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		0.700 0