USH2A, usherin, 7399

N. diseases: 88; N. variants: 327
Disease: Retinal Dystrophies ×
Source: INFERRED ×
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: rs727503715
rs727503715 		1.000 1 215674537 frameshift variant T/- delins 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2007 2007
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2000 2000
dbSNP: rs80338903
rs80338903 		0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs869312186
rs869312186 		1 216190298 stop gained C/A;G snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs746837034
rs746837034 		1 215648760 stop gained C/A;T snv 3.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs758705873
rs758705873 		1 216200111 stop gained G/A;T snv 1.6E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853408
rs878853408 		1 216246733 stop gained G/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853410
rs878853410 		0.925 0.200 1 216321969 frameshift variant A/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853413
rs878853413 		1 215782170 stop gained G/A snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853414
rs878853414 		1 216000418 frameshift variant C/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0