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: rs111033243
rs111033243
SLC26A4
5 0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs111033405
rs111033405
OTOF
4 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs121908364
rs121908364
SLC26A4
3 0.925 0.160 7 107689166 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs201562855
rs201562855
SLC26A4
4 0.925 0.160 7 107690148 missense variant A/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs760413427
rs760413427
SLC26A4
2 0.925 0.160 7 107674187 missense variant A/G snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs984967571
rs984967571
SLC26A4
2 0.925 0.160 7 107672200 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
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: 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: rs200455203
rs200455203
SLC26A4
4 0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05 0.700 1.000 14 2007 2014
dbSNP: rs111033308
rs111033308
SLC26A4
2 0.925 0.160 7 107695984 missense variant G/A;C snv 2.0E-05 6.3E-05 0.700 1.000 12 1998 2015
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: rs142498437
rs142498437
SLC26A4
1 1.000 0.160 7 107690212 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 6 2011 2015
dbSNP: rs757820624
rs757820624
SLC26A4
2 0.925 0.160 7 107710135 missense variant A/G snv 2.0E-05 2.8E-05 0.700 1.000 6 2004 2015
dbSNP: rs777008062
rs777008062
SLC26A4
1 1.000 0.160 7 107690152 inframe deletion TCT/- delins 0.700 1.000 6 2001 2015