rs398124619, USH2A

N. diseases: 5
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.
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 0.700 1.000 3 2009 2016
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 0.700 1.000 3 2009 2016
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 0.700 0
Prelingual sensorineural hearing impairment
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
7 0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 0.700 0
Severe hearing loss
CUI: C3874334
Disease: Severe hearing loss
4 0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 0.700 0