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: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.040 1.000 4 1998 2019
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.020 1.000 2 2015 2019
dbSNP: rs1064797088
rs1064797088
GJB2
2 0.925 0.120 13 20189446 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs111033260
rs111033260
PCDH15
7 0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1185695012
rs1185695012
WHRN
2 0.925 0.200 9 114403898 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121908073
rs121908073
TMC1
3 0.925 0.120 9 72694578 stop gained C/T snv 5.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs121908144
rs121908144
BSND
3 0.882 0.240 1 54999221 missense variant T/C snv 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs121912557
rs121912557
MYO6
4 0.882 0.120 6 75857198 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1244688796
rs1244688796
KCNE1
3 0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1283780488
rs1283780488
NARS2
2 0.925 0.200 11 78469304 stop gained -/T delins 0.010 1.000 1 2015 2015
dbSNP: rs1321703512
rs1321703512
SLCO6A1
1 1.000 0.120 5 102477684 missense variant A/G snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs1465957812
rs1465957812
KCNMA1
1 1.000 0.120 10 77084649 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs200089613
rs200089613
HARS2
2 0.925 0.280 5 140698056 missense variant G/A;T snv 8.0E-05; 3.7E-04 0.010 1.000 1 2020 2020
dbSNP: rs202138002
rs202138002
P2RX2
3 0.882 0.120 12 132621535 missense variant G/A;C snv 1.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs387906893
rs387906893
DIABLO
2 0.925 0.120 12 122216808 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs397508115
rs397508115
KCNQ1
2 0.925 0.200 11 2570683 frameshift variant C/GG delins 0.010 1.000 1 2019 2019
dbSNP: rs397514599
rs397514599
PNPT1
2 0.925 0.120 2 55656148 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs397517255
rs397517255
WHRN
2 0.925 0.200 9 114424483 stop gained G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs431905513
rs431905513
TNC ; DELEC1
2 0.925 0.120 9 115040947 missense variant T/A snv 0.010 1.000 1 2013 2013
dbSNP: rs483352866
rs483352866
TBC1D24
3 0.882 0.240 16 2496681 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs565224393
rs565224393
NARS2
3 0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs574202455
rs574202455
CCNH ; RASA1
1 1.000 0.120 5 87353228 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs587777040
rs587777040
ELMOD3
2 0.925 0.120 2 85389806 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs606231410
rs606231410
COL11A2
2 0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs71524353
rs71524353
WFS1
1 1.000 0.120 4 6300948 stop gained G/A;T snv 1.2E-03 0.010 1.000 1 2014 2014