Gene: USH2A ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033364
rs111033364
USH2A
7 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0
dbSNP: rs371777049
rs371777049
USH2A
2 1.000 1 216325540 missense variant C/T snv 3.6E-05 3.5E-05 0.700 0
dbSNP: rs397518011
rs397518011
USH2A ; LOC105372918
3 0.925 0.200 1 216207280 stop gained G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs41308425
rs41308425
USH2A
3 0.925 0.200 1 215837990 splice donor variant C/G snv 1.6E-05 0.700 0
dbSNP: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.020 1.000 2 2015 2018