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: rs1006935198
rs1006935198
GUCY2D
0.882 0.080 17 8015048 stop gained C/G snv
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.700 0
dbSNP: rs1006935198
rs1006935198
GUCY2D
0.882 0.080 17 8015048 stop gained C/G snv
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs1006935198
rs1006935198
GUCY2D
0.882 0.080 17 8015048 stop gained C/G snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		0.700 0