Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201866631
USH1G
0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 4
rs74315437
CLDN14 ; LOC105369301
1.000 21 36461442 missense variant A/G;T snv 4.0E-06; 2.0E-05 2
rs755804651
AKNAD1 ; GPSM2
1 108896945 missense variant C/A snv 8.0E-06 7.0E-06 1
rs1564805114
CDH23
10 71807558 frameshift variant -/CGAT ins 1
rs762118583
CDH23 ; MIR7152
10 71791284 missense variant A/C snv 8.0E-06 7.0E-06 1
rs1557458426
CLCNKA
1 16033225 missense variant G/T snv 1
rs180899529
EPS8
12 15669833 splice region variant T/C;G snv 2.7E-05; 9.1E-06 1
rs150529554
GJB2
13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04 1
rs1560690591
GRXCR1
4 43020381 missense variant G/A snv 1
rs1559870857
ILDR1
3 121993587 frameshift variant AA/- del 1
rs1565819402
LOC105369867 ; PTPRQ
12 80613829 frameshift variant AT/- delins 1
rs1565855932
LOC105369867 ; PTPRQ
12 80678601 splice acceptor variant G/A snv 1
rs767797828
LOC105372918 ; USH2A
1 216199777 stop gained G/A snv 4.0E-06 1
rs1248889536
LOXHD1
18 46610789 stop gained C/A;T snv 7.0E-06 1
rs1561299289
MARVELD2
5 69432566 frameshift variant -/A delins 1
rs1565430886
MYO7A
11 77189430 missense variant T/C snv 1
rs1565469959
MYO7A
11 77203220 splice region variant A/G snv 1
rs192378817
MYO7A
11 77183146 missense variant C/A;T snv 3.9E-05 1.5E-04 1
rs746667217
MYO7A
11 77205503 missense variant C/G;T snv 6.4E-05 2.1E-05 1
rs751242455
MYO7A
11 77204094 missense variant G/A;C snv 8.8E-06; 4.4E-05 1
rs1558480402
OTOF
2 26474022 frameshift variant -/T delins 1
rs1558490542
OTOF
2 26482435 missense variant A/G snv 1
rs1565127413
OTOG
11 17633806 frameshift variant G/- del 1
rs1559366084
PJVK
2 178453569 frameshift variant ACCTTTTACAC/- delins 1
rs367688416
PJVK
2 178454526 stop gained C/T snv 1.6E-05 1.4E-05 1