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: rs431905486
rs431905486
SLC26A4
2 0.925 0.160 7 107683531 frameshift variant -/A delins 0.700 0
dbSNP: rs1554362735
rs1554362735
SLC26A4
2 1.000 0.120 7 107710069 frameshift variant -/GCTGG delins 0.700 0
dbSNP: rs1554360678
rs1554360678
SLC26A4
2 1.000 0.120 7 107700115 frameshift variant -/T delins 0.700 0
dbSNP: rs1562835515
rs1562835515
SLC26A4
2 1.000 0.120 7 107694478 frameshift variant A/- delins 0.700 0
dbSNP: rs746427774
rs746427774
SLC26A4
2 1.000 0.120 7 107700155 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs1554360358
rs1554360358
SLC26A4
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 1.000 4 2007 2014
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: rs747636919
rs747636919
SLC26A4
1 1.000 0.120 7 107698086 missense variant A/C snv 8.0E-06 0.700 0
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: rs763006761
rs763006761
SLC26A4
3 0.925 0.160 7 107700135 missense variant A/G snv 1.6E-05 0.800 1.000 14 1998 2017
dbSNP: rs121908362
rs121908362
SLC26A4
5 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.800 1.000 13 1998 2017
dbSNP: rs760413427
rs760413427
SLC26A4
2 0.925 0.160 7 107674187 missense variant A/G snv 8.0E-06 0.700 1.000 12 1998 2017
dbSNP: rs1554352234
rs1554352234
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107661723 missense variant A/G snv 0.700 1.000 1 2014 2014
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: 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: rs757820624
rs757820624
SLC26A4
2 0.925 0.160 7 107710135 missense variant A/G snv 2.0E-05 2.8E-05 0.700 0
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: rs121908361
rs121908361
SLC26A4
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.800 1.000 16 1998 2017
dbSNP: rs1284633493
rs1284633493
SLC26A4
2 1.000 0.120 7 107694478 stop gained A/G;T snv 7.0E-06 0.700 0
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: rs1562835480
rs1562835480
SLC26A4
2 1.000 0.120 7 107694457 stop gained A/T snv 0.700 0
dbSNP: rs1554359670
rs1554359670
SLC26A4
2 0.925 0.160 7 107694650 missense variant C/A snv 0.800 1.000 13 1998 2017
dbSNP: rs121908366
rs121908366
SLC26A4
1 1.000 0.120 7 107696035 missense variant C/A snv 0.700 1.000 1 2008 2008
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.700 1.000 12 1998 2017