rs1555635778, GUCY2D

N. diseases: 2
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 0.925 0.080 17 8014751 stop gained C/T snv 0.700 1.000 1 1999 1999
Retinal cone dystrophy 2
CUI: C1866293
Disease: Retinal cone dystrophy 2
11 0.925 0.080 17 8014751 stop gained C/T snv 0.700 1.000 1 1999 1999