rs61749756, 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 8009554 missense variant A/C;G snv 4.0E-06; 2.0E-05 0.700 1.000 9 1996 2018