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: rs1554360816
rs1554360816
SLC26A4
2 1.000 0.120 7 107701069 intron variant TAAGTAACTTGACATTT/- delins 0.700 0
dbSNP: rs111033307
rs111033307
SLC26A4
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.800 1.000 22 1998 2018
dbSNP: rs786204739
rs786204739
SLC26A4
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 1.000 2 2007 2017
dbSNP: rs1399914687
rs1399914687
SLC26A4
2 1.000 0.120 7 107704370 missense variant T/C;G snv 4.4E-06 0.700 1.000 1 2014 2014
dbSNP: rs80338848
rs80338848
SLC26A4
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.800 1.000 12 1998 2017
dbSNP: rs1554354787
rs1554354787
SLC26A4
2 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 3 2006 2017
dbSNP: rs1060499808
rs1060499808
SLC26A4
2 0.925 0.160 7 107704344 missense variant T/C snv 8.9E-06 0.700 1.000 2 2004 2018
dbSNP: rs1315422549
rs1315422549
SLC26A4
1 1.000 0.120 7 107675098 missense variant T/C snv 4.0E-06 0.700 0
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 0
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 12 1998 2017
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: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0
dbSNP: rs111033256
rs111033256
SLC26A4
3 0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 0.800 1.000 17 1998 2019
dbSNP: rs111033318
rs111033318
SLC26A4
3 0.925 0.160 7 107702050 missense variant T/A snv 0.800 1.000 12 1998 2017
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: rs786204601
rs786204601
SLC26A4
3 0.925 0.160 7 107696014 frameshift variant T/- delins 0.700 0
dbSNP: rs111033303
rs111033303
SLC26A4
2 0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04 0.800 1.000 12 1998 2017
dbSNP: rs137853073
rs137853073
KCNJ10
1 1.000 0.120 1 160041952 missense variant G/T snv 4.0E-06 0.700 0
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 0.700 0
dbSNP: rs371544695
rs371544695
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107661750 stop gained G/C;T snv 2.7E-05 0.700 0
dbSNP: rs542620119
rs542620119
SLC26A4
2 0.925 0.160 7 107674302 missense variant G/C snv 9.1E-05 3.5E-05 0.700 1.000 12 1998 2017
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 3 2007 2014
dbSNP: rs137853074
rs137853074
KCNJ10
1 1.000 0.120 1 160041491 missense variant G/A;T snv 1.8E-04 0.700 1.000 1 2009 2009
dbSNP: rs111033380
rs111033380
SLC26A4
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 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 0