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: rs1315422549
rs1315422549
SLC26A4
1 1.000 0.120 7 107675098 missense variant T/C snv 4.0E-06 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
dbSNP: rs912147281
rs912147281
SLC26A4
3 0.925 0.160 7 107683356 splice donor variant T/C snv 8.0E-06 1.4E-05 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: rs431905486
rs431905486
SLC26A4
2 0.925 0.160 7 107683531 frameshift variant -/A delins 0.700 0
dbSNP: rs146281367
rs146281367
SLC26A4
2 0.925 0.160 7 107683537 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2009 2017
dbSNP: rs80338849
rs80338849
SLC26A4
2 0.925 0.160 7 107683538 splice donor variant G/A;T snv 2.0E-04; 1.6E-05 0.700 0
dbSNP: rs111033212
rs111033212
SLC26A4
4 0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 0.800 1.000 12 1998 2017
dbSNP: rs786204474
rs786204474
SLC26A4
3 0.925 0.160 7 107689130 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121908361
rs121908361
SLC26A4
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.800 1.000 16 1998 2017
dbSNP: rs121908364
rs121908364
SLC26A4
3 0.925 0.160 7 107689166 missense variant C/T snv 0.800 1.000 16 1998 2017
dbSNP: rs201562855
rs201562855
SLC26A4
4 0.925 0.160 7 107690148 missense variant A/T snv 4.0E-06 0.800 1.000 19 1998 2019
dbSNP: rs397516413
rs397516413
SLC26A4
2 0.925 0.160 7 107690171 frameshift variant T/- delins 7.0E-06 0.700 1.000 3 2008 2015
dbSNP: rs397516414
rs397516414
SLC26A4
2 0.925 0.160 7 107690178 missense variant G/A snv 0.700 1.000 12 1998 2017
dbSNP: rs147952620
rs147952620
SLC26A4
3 0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs111033305
rs111033305
SLC26A4
4 0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06 0.800 1.000 25 1998 2019
dbSNP: rs111033220
rs111033220
SLC26A4
4 0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04 0.800 1.000 33 1998 2019
dbSNP: rs28939086
rs28939086
SLC26A4
4 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.800 1.000 24 1998 2019
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: rs1562835480
rs1562835480
SLC26A4
2 1.000 0.120 7 107694457 stop gained A/T snv 0.700 0
dbSNP: rs111033307
rs111033307
SLC26A4
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.800 1.000 22 1998 2018
dbSNP: rs768471577
rs768471577
SLC26A4
2 0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05 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: rs1562835515
rs1562835515
SLC26A4
2 1.000 0.120 7 107694478 frameshift variant A/- delins 0.700 0
dbSNP: rs747076316
rs747076316
SLC26A4
3 0.925 0.160 7 107694622 stop gained C/A;G;T snv 2.0E-05 2.1E-05 0.700 0