rs61750173, GUCY2D

N. diseases: 6
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.
Retinal cone dystrophy 2
CUI: C1866293
Disease: Retinal cone dystrophy 2
11 0.827 0.080 17 8014701 missense variant G/A snv 0.800 1.000 14 1998 2018
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.827 0.080 17 8014701 missense variant G/A snv 0.700 1.000 1 2001 2001
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.827 0.080 17 8014701 missense variant G/A snv 0.700 0
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.827 0.080 17 8014701 missense variant G/A snv 0.020 1.000 2 2004 2014
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.827 0.080 17 8014701 missense variant G/A snv 0.010 1.000 1 2004 2004
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.827 0.080 17 8014701 missense variant G/A snv 0.010 1.000 1 2004 2004