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: rs111033257
rs111033257
SLC26A4
2 0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05 0.810 1.000 28 1997 2014
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.800 1.000 27 1997 2014
dbSNP: rs121908365
rs121908365
SLC26A4
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.800 1.000 20 1997 2016
dbSNP: rs121908360
rs121908360
SLC26A4
1 1.000 0.160 7 107702023 missense variant T/G snv 0.800 1.000 18 1997 2009
dbSNP: rs1442599990
rs1442599990
SLC26A4
1 1.000 0.160 7 107672147 missense variant A/G snv 7.0E-06 0.700 1.000 18 1997 2009
dbSNP: rs1554354382
rs1554354382
SLC26A4
1 1.000 0.160 7 107672242 missense variant T/C snv 0.700 1.000 18 1997 2009
dbSNP: rs1554361015
rs1554361015
SLC26A4
1 1.000 0.160 7 107701981 missense variant T/C snv 0.700 1.000 18 1997 2009
dbSNP: rs397516414
rs397516414
SLC26A4
2 0.925 0.160 7 107690178 missense variant G/A snv 0.700 1.000 18 1997 2009
dbSNP: rs397516413
rs397516413
SLC26A4
2 0.925 0.160 7 107690171 frameshift variant T/- delins 7.0E-06 0.700 1.000 12 1997 2015
dbSNP: rs786204474
rs786204474
SLC26A4
3 0.925 0.160 7 107689130 missense variant C/T snv 7.0E-06 0.700 1.000 10 2007 2014
dbSNP: rs111033318
rs111033318
SLC26A4
3 0.925 0.160 7 107702050 missense variant T/A snv 0.700 1.000 9 2003 2014
dbSNP: rs786204739
rs786204739
SLC26A4
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 1.000 8 2007 2014
dbSNP: rs786204450
rs786204450
SLC26A4
1 1.000 0.160 7 107698042 frameshift variant -/C delins 0.700 1.000 7 2003 2013
dbSNP: rs1057517042
rs1057517042
SLC26A4
1 1.000 0.160 7 107690147 missense variant C/A snv 0.700 1.000 6 2006 2016
dbSNP: rs111033306
rs111033306
SLC26A4
1 1.000 0.160 7 107694419 inframe deletion TGC/- delins 2.8E-05 0.700 1.000 6 1998 2013
dbSNP: rs777008062
rs777008062
SLC26A4
1 1.000 0.160 7 107690152 inframe deletion TCT/- delins 0.700 1.000 6 2001 2015
dbSNP: rs1554360358
rs1554360358
SLC26A4
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 1.000 5 2010 2015
dbSNP: rs727505088
rs727505088
SLC26A4
1 1.000 0.160 7 107696017 missense variant A/G snv 0.700 1.000 5 2013 2017
dbSNP: rs786204523
rs786204523
SLC26A4
1 1.000 0.160 7 107710089 frameshift variant T/- delins 0.700 1.000 5 1998 2014
dbSNP: rs1045933779
rs1045933779
SLC26A4
1 1.000 0.160 7 107710150 missense variant T/C snv 7.0E-06 0.700 1.000 4 2010 2015
dbSNP: rs1554352718
rs1554352718
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663390 missense variant G/T snv 0.700 1.000 4 2009 2017
dbSNP: rs786204581
rs786204581
SLC26A4 ; SLC26A4-AS1
3 0.925 0.160 7 107663366 stop gained C/T snv 0.700 1.000 4 2009 2014
dbSNP: rs1057516243
rs1057516243
SLC26A4
1 1.000 0.160 7 107698092 missense variant G/T snv 0.700 1.000 3 2013 2014
dbSNP: rs1057516881
rs1057516881
SLC26A4
1 1.000 0.160 7 107674350 splice donor variant T/A snv 0.700 1.000 3 2012 2014
dbSNP: rs1057517161
rs1057517161
SLC26A4
1 1.000 0.160 7 107701972 missense variant T/A snv 0.700 1.000 3 2013 2014