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: rs1057516953
rs1057516953
SLC26A4 ; SLC26A4-AS1
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0
dbSNP: rs111033199
rs111033199
SLC26A4
3 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs111033205
rs111033205
SLC26A4 ; SLC26A4-AS1
4 0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06 0.700 0
dbSNP: rs111033242
rs111033242
SLC26A4
3 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.700 0
dbSNP: rs111033312
rs111033312
SLC26A4
4 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 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: rs111033380
rs111033380
SLC26A4
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121909341
rs121909341
FOXI1
2 0.925 0.160 5 170108274 missense variant G/A;C snv 6.8E-05 0.700 0
dbSNP: rs1241745103
rs1241745103
SLC26A4
3 0.925 0.160 7 107701139 frameshift variant G/- del 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: rs1315422549
rs1315422549
SLC26A4
1 1.000 0.120 7 107675098 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs137853073
rs137853073
KCNJ10
1 1.000 0.120 1 160041952 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs147952620
rs147952620
SLC26A4
3 0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs1554360678
rs1554360678
SLC26A4
2 1.000 0.120 7 107700115 frameshift variant -/T delins 0.700 0
dbSNP: rs1554360816
rs1554360816
SLC26A4
2 1.000 0.120 7 107701069 intron variant TAAGTAACTTGACATTT/- delins 0.700 0
dbSNP: rs1554362735
rs1554362735
SLC26A4
2 1.000 0.120 7 107710069 frameshift variant -/GCTGG delins 0.700 0
dbSNP: rs1562835480
rs1562835480
SLC26A4
2 1.000 0.120 7 107694457 stop gained A/T snv 0.700 0
dbSNP: rs1562835515
rs1562835515
SLC26A4
2 1.000 0.120 7 107694478 frameshift variant A/- delins 0.700 0
dbSNP: rs200511789
rs200511789
SLC26A4
1 1.000 0.120 7 107695963 missense variant A/C snv 3.8E-04 1.0E-04 0.700 0
dbSNP: rs201660407
rs201660407
SLC26A4
3 0.925 0.160 7 107690236 missense variant A/C;G snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs371544695
rs371544695
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107661750 stop gained G/C;T snv 2.7E-05 0.700 0
dbSNP: rs397516411
rs397516411
SLC26A4 ; SLC26A4-AS1
2 0.925 0.160 7 107661637 splice acceptor variant A/G snv 1.2E-04 2.7E-04 0.700 0
dbSNP: rs431905486
rs431905486
SLC26A4
2 0.925 0.160 7 107683531 frameshift variant -/A delins 0.700 0
dbSNP: rs727505080
rs727505080
SLC26A4
1 1.000 0.120 7 107683277 missense variant G/A snv 2.3E-04 9.1E-05 0.700 0