rs61749675, GUCY2D

N. diseases: 3
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.
Amaurosis congenita of Leber, type 1
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
60 0.882 0.080 17 8004104 missense variant T/C snv 0.700 1.000 9 1996 2018
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.080 17 8004104 missense variant T/C snv 0.010 1.000 1 2007 2007
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 17 8004104 missense variant T/C snv 0.010 1.000 1 2007 2007