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: rs117685390
rs117685390
GJB2
1 1.000 0.120 13 20193170 upstream gene variant A/G snv 0.16 0.010 1.000 1 2013 2013
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: rs201294938
rs201294938
COCH ; LOC100506071
1 1.000 0.120 14 30884617 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs370564476
rs370564476
GRAP
1 1.000 0.120 17 19024372 missense variant T/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs371465450
rs371465450
OTOGL
1 1.000 0.120 12 80255183 stop gained C/T snv 4.5E-05 7.0E-05 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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: rs144964568
rs144964568
GJB3 ; SMIM12 ; LOC105378642
1 1.000 0.120 1 34785465 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1566538321
rs1566538321
GJB6
1 1.000 0.120 13 20222994 frameshift variant G/- delins 0.700 0
dbSNP: rs772862268
rs772862268
GJB6
1 1.000 0.120 13 20223159 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs1064797088
rs1064797088
GJB2
2 0.925 0.120 13 20189446 missense variant C/T snv 0.010 1.000 1 2011 2011
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: rs1283780488
rs1283780488
NARS2
2 0.925 0.200 11 78469304 stop gained -/T delins 0.010 1.000 1 2015 2015
dbSNP: rs144446375
rs144446375
CEMIP
2 1.000 0.120 15 80881079 missense variant G/A snv 1.2E-05 4.2E-05 0.010 1.000 1 2003 2003