USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Cone-Rod Dystrophies ×
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: rs397517994
rs397517994 		0.882 0.200 1 215640615 stop gained G/A snv 7.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs483353055
rs483353055 		0.827 0.200 1 216200031 missense variant C/T snv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs80338903
rs80338903 		0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019