USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Blindness ×
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: rs111033272
rs111033272 		0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0