rs199679165, USH2A

N. diseases: 6
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 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 1.000 2 2007 2011
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 1.000 2 2007 2011
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
18 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0
Visual field constriction
CUI: C0235095
Disease: Visual field constriction
1 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0