Disease: Amaurosis congenita of Leber, type 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs150427474
rs150427474 		1.000 0.040 17 6425644 missense variant C/A;T snv 3.8E-03; 8.0E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs62637015
rs62637015 		1.000 0.040 17 6425710 missense variant C/A;T snv 2.6E-03; 1.2E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2006 2006