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: 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: 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: 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: 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: 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: rs747636919
rs747636919
SLC26A4
1 1.000 0.120 7 107698086 missense variant A/C snv 8.0E-06 0.700 0
dbSNP: rs111033308
rs111033308
SLC26A4
2 0.925 0.160 7 107695984 missense variant G/A;C snv 2.0E-05 6.3E-05 0.800 1.000 19 1998 2018
dbSNP: rs1554359670
rs1554359670
SLC26A4
2 0.925 0.160 7 107694650 missense variant C/A snv 0.800 1.000 13 1998 2017
dbSNP: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
2 0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05 0.800 1.000 13 1998 2017
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: rs145254330
rs145254330
SLC26A4
2 0.925 0.160 7 107672182 missense variant C/T snv 3.3E-04 1.7E-04 0.800 1.000 12 1998 2017
dbSNP: rs397516414
rs397516414
SLC26A4
2 0.925 0.160 7 107690178 missense variant G/A snv 0.700 1.000 12 1998 2017
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: rs760413427
rs760413427
SLC26A4
2 0.925 0.160 7 107674187 missense variant A/G snv 8.0E-06 0.700 1.000 12 1998 2017
dbSNP: rs111033257
rs111033257
SLC26A4
2 0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05 0.700 1.000 4 1998 2016
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: rs146281367
rs146281367
SLC26A4
2 0.925 0.160 7 107683537 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2009 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: rs1554355011
rs1554355011
SLC26A4
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 1.000 3 2003 2015
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: rs727503430
rs727503430
SLC26A4
2 0.925 0.160 7 107704386 splice donor variant G/A snv 1.3E-05 2.8E-05 0.700 1.000 3 2004 2014
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