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: 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 36 1997 2017
dbSNP: rs111033199
rs111033199
SLC26A4
3 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.810 1.000 34 1997 2017
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 34 1997 2014
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 29 1997 2017
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: rs763006761
rs763006761
SLC26A4
3 0.925 0.160 7 107700135 missense variant A/G snv 1.6E-05 0.800 1.000 23 1997 2017
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 0.800 1.000 21 1997 2013
dbSNP: rs28939086
rs28939086
SLC26A4
4 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.810 1.000 21 1997 2013
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: rs111033309
rs111033309
SLC26A4
1 1.000 0.160 7 107702038 missense variant G/A;C snv 6.4E-05; 4.0E-06 0.800 1.000 18 1997 2009
dbSNP: rs121908360
rs121908360
SLC26A4
1 1.000 0.160 7 107702023 missense variant T/G snv 0.800 1.000 18 1997 2009
dbSNP: rs1219724284
rs1219724284
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663435 missense variant G/C snv 4.0E-06 0.700 1.000 18 1997 2009
dbSNP: rs1293971731
rs1293971731
SLC26A4
1 1.000 0.160 7 107690205 missense variant G/C;T snv 8.0E-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: 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: rs777008062
rs777008062
SLC26A4
1 1.000 0.160 7 107690152 inframe deletion TCT/- delins 0.700 1.000 6 2001 2015
dbSNP: rs147952620
rs147952620
SLC26A4
3 0.925 0.160 7 107690199 missense variant C/T snv 1.6E-05 0.700 1.000 5 2010 2014
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: rs752807925
rs752807925
SLC26A4
3 0.925 0.160 7 107704382 stop gained C/T snv 1.3E-05 0.700 1.000 5 2011 2014