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: rs1554354370
rs1554354370
SLC26A4
1 1.000 0.120 7 107672228 missense variant C/T snv 0.700 1.000 12 1998 2017
dbSNP: rs1554355011
rs1554355011
SLC26A4
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs141142414
rs141142414
SLC26A4 ; SLC26A4-AS1
1 1.000 0.120 7 107663427 missense variant C/A;G;T snv 4.0E-06; 2.0E-05 0.700 1.000 2 2006 2017
dbSNP: rs1554352676
rs1554352676
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107663357 missense variant C/T snv 0.700 1.000 2 2007 2014
dbSNP: rs749013429
rs749013429
SLC26A4
2 1.000 0.120 7 107702030 missense variant C/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 2 2014 2016
dbSNP: rs121908366
rs121908366
SLC26A4
1 1.000 0.120 7 107696035 missense variant C/A snv 0.700 1.000 1 2008 2008
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: 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: rs1554352234
rs1554352234
SLC26A4 ; SLC26A4-AS1
2 1.000 0.120 7 107661723 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs111033380
rs111033380
SLC26A4
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1284633493
rs1284633493
SLC26A4
2 1.000 0.120 7 107694478 stop gained A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1315422549
rs1315422549
SLC26A4
1 1.000 0.120 7 107675098 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs137853073
rs137853073
KCNJ10
1 1.000 0.120 1 160041952 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs1554360678
rs1554360678
SLC26A4
2 1.000 0.120 7 107700115 frameshift variant -/T delins 0.700 0
dbSNP: rs1554360816
rs1554360816
SLC26A4
2 1.000 0.120 7 107701069 intron variant TAAGTAACTTGACATTT/- delins 0.700 0
dbSNP: rs1554362735
rs1554362735
SLC26A4
2 1.000 0.120 7 107710069 frameshift variant -/GCTGG delins 0.700 0
dbSNP: rs1562835480
rs1562835480
SLC26A4
2 1.000 0.120 7 107694457 stop gained A/T snv 0.700 0
dbSNP: rs1562835515
rs1562835515
SLC26A4
2 1.000 0.120 7 107694478 frameshift variant A/- delins 0.700 0
dbSNP: rs200511789
rs200511789
SLC26A4
1 1.000 0.120 7 107695963 missense variant A/C snv 3.8E-04 1.0E-04 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: rs727505080
rs727505080
SLC26A4
1 1.000 0.120 7 107683277 missense variant G/A snv 2.3E-04 9.1E-05 0.700 0
dbSNP: rs746427774
rs746427774
SLC26A4
2 1.000 0.120 7 107700155 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs747636919
rs747636919
SLC26A4
1 1.000 0.120 7 107698086 missense variant A/C snv 8.0E-06 0.700 0
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 33 1998 2019
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 25 1998 2019