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: rs1131692232
rs1131692232
PUF60
6 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
dbSNP: rs1559372512
rs1559372512
PJVK
2 1.000 0.120 2 178461120 inframe deletion ACA/- delins 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs80338947
rs80338947
GJB2
3 1.000 0.120 13 20189222 inframe deletion CTC/- delins 7.2E-05 9.1E-05 0.700 0
dbSNP: rs1207102900
rs1207102900
OTOF
2 1.000 0.120 2 26460027 stop lost A/G snv 0.700 0
dbSNP: rs111033293
rs111033293
GJB2
10 0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs776848994
rs776848994
GJB6
2 1.000 0.120 13 20223480 start lost T/C snv 1.6E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1386887007
rs1386887007
MYO7A
2 1.000 0.120 11 77207407 splice region variant G/A;C snv 4.5E-06; 4.5E-06 0.700 0
dbSNP: rs1553356452
rs1553356452
OTOF
2 1.000 0.120 2 26494937 splice region variant C/T snv 0.700 0
dbSNP: rs1565541888
rs1565541888
TECTA
2 1.000 0.120 11 121187999 splice region variant G/A snv 0.700 0
dbSNP: rs192366176
rs192366176
SLC26A4
4 0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs786204734
rs786204734
GJB2
2 1.000 0.120 13 20192783 splice region variant C/A;T snv 0.700 0
dbSNP: rs1057518840
rs1057518840
OTOF
1 2 26476319 splice acceptor variant T/C snv 0.700 0
dbSNP: rs111033313
rs111033313
SLC26A4
4 0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04 0.700 0
dbSNP: rs1237955948
rs1237955948
TMPRSS3
2 1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs1554355011
rs1554355011
SLC26A4
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1554883705
rs1554883705
PCDH15
3 0.925 0.200 10 53961893 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555076948
rs1555076948
MYO7A
3 0.925 0.200 11 77172747 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs1561805689
rs1561805689
ADGRV1
2 1.000 0.200 5 90823424 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1564602202
rs1564602202
MYO3A
2 1.000 0.120 10 26153849 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1564791773
rs1564791773
CDH23
2 1.000 0.120 10 71784286 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1565017125
rs1565017125
USH1C
2 1.000 0.120 11 17496814 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1567658906
rs1567658906
MYO15A
2 1.000 0.120 17 18158924 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1568546120
rs1568546120
ERCC2
2 1.000 0.160 19 45368993 splice acceptor variant C/A snv 0.700 0
dbSNP: rs751906778
rs751906778
MSRB3
2 1.000 12 65463154 splice acceptor variant G/A snv 1.2E-05 0.700 0