Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs1477766714
OTOGL
1.000 12 80339241 stop gained C/G;T snv 2
rs267606855
GRXCR1
1.000 4 42893495 stop gained C/T snv 2
rs371777049
USH2A
1.000 1 216325540 missense variant C/T snv 3.6E-05 3.5E-05 2
rs751906778
MSRB3
1.000 12 65463154 splice acceptor variant G/A snv 1.2E-05 2
rs751989516
PHC1
1.000 12 8932951 synonymous variant C/T snv 2
rs754472294
ESPN
1.000 1 6460077 frameshift variant C/- del 4.0E-06 2
rs786204841
CLDN14 ; LOC105369301
1.000 21 36461002 missense variant C/T snv 2
rs929413725
PRKCG
1.000 19 53884181 stop gained C/T snv 2
rs1057518810
SLC26A4-AS1 ; SLC26A4
7 107663430 missense variant T/C snv 1.4E-05 1
rs1057518840
OTOF
2 26476319 splice acceptor variant T/C snv 1
rs111033361
GJB2
13 20189355 missense variant A/G snv 2.0E-05 7.0E-06 1
rs113288603 19 40856388 intron variant C/T snv 8.7E-02 1
rs1172585670
ILDR1
3 121993482 missense variant C/A;T snv 1
rs1262403457
NT5E
6 85493984 missense variant A/G snv 4.0E-06 1
rs1269396908
ESRRB
14 76439579 missense variant T/C snv 4.0E-06 1
rs1316191911
PJVK
2 178461239 missense variant C/T snv 4.0E-06 1.4E-05 1
rs145913750
TMPRSS3
21 42383169 missense variant G/A snv 2.4E-05 2.1E-05 1
rs1462051345
COL11A2
6 33177678 missense variant C/G snv 4.1E-06 1
rs1476034902
GJB2
13 20189542 missense variant T/C snv 1.4E-05 1
rs1561590396
POU4F3
5 146339801 missense variant C/T snv 1
rs1564573788
MYO3A
10 26125584 missense variant T/G snv 1
rs1567939718
USH1G
17 74919981 frameshift variant -/C delins 1
rs1567940507
USH1G
17 74920522 missense variant G/A snv 1