rs104893968, GUCA1A

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.
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
6 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.800 1.000 8 1998 2009
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.700 1.000 1 2019 2019
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.700 1.000 1 2019 2019
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.020 1.000 2 2001 2001
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.020 1.000 2 2001 2001
RETINAL CONE DYSTROPHY 1
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
6 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.020 1.000 2 2000 2004
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.020 1.000 2 2001 2001
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.010 1.000 1 2019 2019