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: 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: rs111033318
rs111033318
SLC26A4
3 0.925 0.160 7 107702050 missense variant T/A snv 0.700 0
dbSNP: rs111033335
rs111033335
GJB2
2 1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins 0.700 0
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: rs111033380
rs111033380
SLC26A4
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
6 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
dbSNP: rs1187168418
rs1187168418
TPRN
2 1.000 0.120 9 137199553 stop gained C/A;G snv 0.700 0
dbSNP: rs1207102900
rs1207102900
OTOF
2 1.000 0.120 2 26460027 stop lost A/G snv 0.700 0
dbSNP: rs1209665716
rs1209665716
MYO15A ; LOC105371566
2 1.000 0.120 17 18135798 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121908362
rs121908362
SLC26A4
5 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.700 0
dbSNP: rs121908363
rs121908363
SLC26A4
4 0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-05 0.700 0
dbSNP: rs121908364
rs121908364
SLC26A4
3 0.925 0.160 7 107689166 missense variant C/T snv 0.700 0
dbSNP: rs1226171550
rs1226171550
ILDR1
2 1.000 0.120 3 121993717 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs1229200252
rs1229200252
MYO15A ; LOC105371566
2 1.000 0.120 17 18119405 missense variant C/A;T snv 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: rs1240409145
rs1240409145
MYO15A ; LOC105371566
2 1.000 0.120 17 18143596 missense variant G/C;T snv 5.8E-06 7.0E-06 0.700 0
dbSNP: rs1244688796
rs1244688796
KCNE1
3 0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1264310782
rs1264310782
CDH23
2 1.000 0.120 10 71799579 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1284633493
rs1284633493
SLC26A4
2 1.000 0.120 7 107694478 stop gained A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1316299165
rs1316299165
USH1G
2 1.000 0.200 17 74919776 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1338605788
rs1338605788
MYO7A
2 1.000 0.120 11 77211338 splice donor variant G/A snv 0.700 0
dbSNP: rs1344509500
rs1344509500
CDH23
2 1.000 0.120 10 71810017 stop gained G/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs137853001
rs137853001
PCDH15
3 0.925 0.200 10 54664256 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0