rs61750172, GUCY2D

N. diseases: 8
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 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.830 1.000 17 1998 2018
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.700 0
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.060 1.000 6 1998 2007
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.050 1.000 5 1998 2007
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.040 1.000 4 1998 2007
Blindness
CUI: C0456909
Disease: Blindness
34 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
CONE-ROD DYSTROPHY 1 (disorder)
CUI: C1833564
Disease: CONE-ROD DYSTROPHY 1 (disorder)
1 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2001 2001
Disorder of eye
CUI: C0015397
Disease: Disorder of eye
14 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2000 2000