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: 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: rs918684449
rs918684449
SLC26A4
1 1.000 0.160 7 107675077 frameshift variant A/- delins 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs912147281
rs912147281
SLC26A4
3 0.925 0.160 7 107683356 splice donor variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 2 2013 2013
dbSNP: rs876657722
rs876657722
SLC26A4
1 1.000 0.160 7 107696040 splice donor variant G/A snv 0.700 0
dbSNP: rs80338849
rs80338849
SLC26A4
2 0.925 0.160 7 107683538 splice donor variant G/A;T snv 2.0E-04; 1.6E-05 0.700 1.000 4 1998 2015
dbSNP: rs80338848
rs80338848
SLC26A4
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.810 1.000 21 1997 2019
dbSNP: rs786204739
rs786204739
SLC26A4
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 1.000 8 2007 2014
dbSNP: rs786204730
rs786204730
SLC26A4
1 1.000 0.160 7 107672192 frameshift variant -/T delins 0.700 1.000 2 2005 2013
dbSNP: rs786204601
rs786204601
SLC26A4
3 0.925 0.160 7 107696014 frameshift variant T/- delins 0.700 1.000 3 2011 2013
dbSNP: rs786204600
rs786204600
SLC26A4
1 1.000 0.160 7 107683324 frameshift variant C/- delins 0.700 1.000 2 2005 2013
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: rs786204523
rs786204523
SLC26A4
1 1.000 0.160 7 107710089 frameshift variant T/- delins 0.700 1.000 5 1998 2014
dbSNP: rs786204504
rs786204504
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107661805 splice donor variant G/- delins 0.700 1.000 2 2012 2013
dbSNP: rs786204502
rs786204502
SLC26A4
1 1.000 0.160 7 107701942 stop gained G/A snv 0.700 1.000 2 2012 2014
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: rs786204458
rs786204458
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663294 splice acceptor variant A/G snv 0.700 1.000 3 2002 2005
dbSNP: rs786204450
rs786204450
SLC26A4
1 1.000 0.160 7 107698042 frameshift variant -/C delins 0.700 1.000 7 2003 2013
dbSNP: rs786204426
rs786204426
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107661644 start lost G/C snv 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
1 1.000 0.160 7 107663410 frameshift variant T/- del 4.0E-06 3.5E-05 0.700 1.000 4 1999 2013
dbSNP: rs778901860
rs778901860
SLC26A4
1 1.000 0.160 7 107701161 stop gained A/T snv 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs777333979
rs777333979
SLC26A4
1 1.000 0.160 7 107690134 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 4 2007 2014
dbSNP: rs777008062
rs777008062
SLC26A4
1 1.000 0.160 7 107690152 inframe deletion TCT/- delins 0.700 1.000 6 2001 2015
dbSNP: rs768471577
rs768471577
SLC26A4
2 0.925 0.160 7 107694476 missense variant A/G snv 7.6E-05 2.1E-05 0.710 1.000 7 2000 2015
dbSNP: rs768245266
rs768245266
SLC26A4
1 1.000 0.160 7 107683351 frameshift variant -/G delins 1.2E-05 0.700 1.000 1 2007 2007
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