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: 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: rs1554359670
rs1554359670
SLC26A4
2 0.925 0.160 7 107694650 missense variant C/A snv 0.800 1.000 13 1998 2017
dbSNP: rs111033318
rs111033318
SLC26A4
3 0.925 0.160 7 107702050 missense variant T/A snv 0.800 1.000 12 1998 2017
dbSNP: rs1554354370
rs1554354370
SLC26A4
1 1.000 0.120 7 107672228 missense variant C/T snv 0.700 1.000 12 1998 2017
dbSNP: rs397516414
rs397516414
SLC26A4
2 0.925 0.160 7 107690178 missense variant G/A snv 0.700 1.000 12 1998 2017
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
dbSNP: rs111033257
rs111033257
SLC26A4
2 0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05 0.700 1.000 4 1998 2016
dbSNP: rs121908365
rs121908365
SLC26A4
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.700 1.000 4 2002 2017
dbSNP: rs1554360358
rs1554360358
SLC26A4
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 1.000 4 2007 2014
dbSNP: rs1554354787
rs1554354787
SLC26A4
2 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 3 2006 2017
dbSNP: rs1554355011
rs1554355011
SLC26A4
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 1.000 3 2003 2015
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: rs1554352676
rs1554352676
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107663357 missense variant C/T snv 0.700 1.000 2 2007 2014
dbSNP: rs786204739
rs786204739
SLC26A4
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 1.000 2 2007 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: 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: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 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: 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