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: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.710 1.000 1 2007 2007
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2007 2007