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: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 20 1997 2014
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.010 1.000 1 2007 2007
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 1.000 1 2007 2007
dbSNP: rs281865404
rs281865404
ABCA4
0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2007 2007