rs1006935198, GUCY2D

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Amaurosis congenita of Leber, type 1
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
60 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0
Central areolar choroidal sclerosis
CUI: C1536451
Disease: Central areolar choroidal sclerosis
5 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0
Retinal cone dystrophy 2
CUI: C1866293
Disease: Retinal cone dystrophy 2
11 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0