Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199605265
rs199605265
USH2A
0.882 0.200 1 215675336 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs199605265
rs199605265
USH2A
0.882 0.200 1 215675336 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2010 2010
dbSNP: rs199605265
rs199605265
USH2A
0.882 0.200 1 215675336 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0