rs80338902, USH2A

N. diseases: 10
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 IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.800 1.000 22 1998 2014
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.800 1.000 13 2000 2014
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.750 1.000 6 2000 2019
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.710 1.000 15 2000 2018
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
16 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.710 1.000 1 2014 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.700 1.000 1 2000 2000
Usher Syndrome, Type II
CUI: C1568249
Disease: Usher Syndrome, Type II
7 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.030 1.000 3 2004 2018
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.020 1.000 2 2015 2018
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
31 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.010 1.000 1 2004 2004
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.010 1.000 1 2004 2004