rs104893967, GUCA1A

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 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
6 0.827 0.080 6 42178374 missense variant A/G snv 0.800 1.000 8 1998 2009
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
RETINAL CONE DYSTROPHY 1
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
6 0.827 0.080 6 42178374 missense variant A/G snv 0.030 1.000 3 1998 2000
Progressive Cone Dystrophy
CUI: C3665342
Disease: Progressive Cone Dystrophy
2 0.827 0.080 6 42178374 missense variant A/G snv 0.010 1.000 1 2005 2005