Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1035024403
rs1035024403
USH2A
0.882 0.200 1 216048648 splice acceptor variant C/T snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1057518826
rs1057518826
USH2A
0.925 0.200 1 215993103 missense variant G/A;T snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1057518826
rs1057518826
USH2A
0.925 0.200 1 215993103 missense variant G/A;T snv 4.0E-06
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy 		0.700 0
dbSNP: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		0.700 0
dbSNP: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		0.700 0
dbSNP: rs111033280
rs111033280
USH2A
0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.700 0
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs111033367
rs111033367
USH2A
0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs111033382
rs111033382
USH2A
0.925 0.200 1 215759659 splice donor variant C/A;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs111033382
rs111033382
USH2A
0.925 0.200 1 215759659 splice donor variant C/A;T snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs114402911
rs114402911
USH2A
1.000 0.200 1 216046516 missense variant C/A snv 5.6E-03; 4.0E-06 7.5E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1172628170
rs1172628170
USH2A
1.000 0.080 1 215675463 missense variant T/C snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1177198729
rs1177198729
USH2A ; LOC105372918
0.882 0.200 1 216196630 stop gained C/A;G snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1215540106
rs1215540106
USH2A ; LOC105372918
1.000 0.200 1 216198562 inframe deletion TAGT/C;T delins 4.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 0
dbSNP: rs121912598
rs121912598
USH2A
1.000 0.200 1 216364958 stop gained A/C snv 1.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0