rs111033364, USH2A

N. diseases: 7
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
CUI: C0271097
Disease: Usher Syndrome
74 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.720 1.000 7 2004 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 1.000 2 2004 2019
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 1.000 1 2016 2016
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 1.000 1 2016 2016
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
16 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0