rs111033334, USH2A

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
16 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.710 1.000 1 2007 2007
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 1.000 1 2016 2016
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
Peripheral visual field loss
CUI: C0241688
Disease: Peripheral visual field loss
4 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
Progressive night blindness
CUI: C4024818
Disease: Progressive night blindness
3 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.010 1.000 1 2007 2007
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.010 1.000 1 2008 2008