USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Overgrowth ×
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: rs1553268563
rs1553268563 		1 215845823 coding sequence variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903 		0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015