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: rs146733615
rs146733615
USH2A
0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2007 2014
dbSNP: rs146733615
rs146733615
USH2A
0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 4 2007 2014
dbSNP: rs146733615
rs146733615
USH2A
0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs146733615
rs146733615
USH2A
0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.700 0