rs201414567, GUCY2D

N. diseases: 1
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 1.000 0.040 17 8003211 missense variant C/T snv 1.0E-03 4.7E-04 0.700 1.000 9 1996 2018