USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Leber Congenital Amaurosis ×
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: rs754768875
rs754768875 		0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2019 2019