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: rs756790858
rs756790858
COCH ; LOC100506071
2 0.925 14 30878863 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2018 2018
dbSNP: rs104893746
rs104893746
MITF
6 0.851 0.120 3 69956460 stop gained C/T snv 0.700 0
dbSNP: rs1302739538
rs1302739538
GJB2
3 0.882 0.120 13 20189066 stop gained C/G;T snv 0.700 0
dbSNP: rs146733615
rs146733615
USH2A
4 0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs398124619
rs398124619
USH2A
5 0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs483353055
rs483353055
USH2A ; LOC105372918
6 0.827 0.200 1 216200031 missense variant C/T snv 0.700 0
dbSNP: rs758571672
rs758571672
USH2A
3 0.882 0.200 1 216289392 missense variant C/A snv 1.6E-05 2.1E-05 0.700 0