rs875989778, RAB28

N. diseases: 5
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.
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
CONE-ROD DYSTROPHY 18
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
Electroretinogram abnormal
CUI: C0476397
Disease: Electroretinogram abnormal
10 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
Pallor of optic disc
CUI: C0554970
Disease: Pallor of optic disc
4 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015