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: rs387906893
rs387906893
DIABLO
2 0.925 0.120 12 122216808 missense variant G/A snv 0.010 1.000 1 2011 2011
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: rs56002719
rs56002719
WFS1
1 1.000 0.120 4 6302122 missense variant A/T snv 3.8E-03 3.5E-03 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: rs5756795
rs5756795
TRIOBP
1 1.000 0.120 22 37726115 missense variant T/C snv 0.39 0.35 0.010 1.000 1 2016 2016
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
dbSNP: rs749431664
rs749431664
GJB3 ; SMIM12 ; LOC105378642
1 1.000 0.120 1 34785282 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs750584965
rs750584965
TMIE
1 1.000 0.120 3 46709171 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs754786373
rs754786373
DMXL2
1 1.000 0.120 15 51471365 missense variant C/T snv 3.6E-05 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs756215789
rs756215789
MPZL2
1 1.000 0.120 11 118263084 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs757774496
rs757774496
OTOGL
1 1.000 0.120 12 80279038 stop gained C/A;T snv 3.4E-05 4.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs759504704
rs759504704
NARS2
4 0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765136820
rs765136820
ILDR1
1 1.000 0.120 3 122001823 missense variant C/G snv 1.1E-04 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs76737438
rs76737438
KCNQ1
1 1.000 0.120 11 2570686 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs776848994
rs776848994
GJB6
2 1.000 0.120 13 20223480 start lost T/C snv 1.6E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs778568636
rs778568636
LOXHD1
1 1.000 0.120 18 46505856 missense variant C/A snv 6.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs779124360
rs779124360
KCNE1
3 0.925 0.200 21 34449585 stop gained C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs780320724
rs780320724
GJB6
2 0.925 0.120 13 20223362 missense variant G/A snv 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs794729665
rs794729665
DCDC2
2 0.925 0.120 6 24178385 missense variant T/G snv 0.700 1.000 1 2015 2015