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: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.020 1.000 2 2010 2011
dbSNP: rs1057519601
rs1057519601
MYO15A
2 0.925 0.120 17 18171764 frameshift variant G/CCAGGCCCGTGCAGCTC delins 0.700 0
dbSNP: rs1057519603
rs1057519603
MYO15A ; LOC105371566
2 0.925 0.120 17 18126856 missense variant T/C snv 0.700 0
dbSNP: rs1057519604
rs1057519604
MYO15A ; LOC105371566
2 0.925 0.120 17 18148937 frameshift variant G/- delins 0.700 0
dbSNP: rs1057519606
rs1057519606
MYO15A
2 0.925 0.120 17 18159349 splice donor variant T/C snv 0.700 0
dbSNP: rs1057519607
rs1057519607
MYO15A
2 0.925 0.120 17 18178843 frameshift variant -/C delins 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: 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: rs111033293
rs111033293
GJB2
10 0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05 0.010 1.000 1 2009 2009
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: 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: rs121908354
rs121908354
CDH23
4 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.020 1.000 2 2015 2019
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: 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
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: rs1465957812
rs1465957812
KCNMA1
1 1.000 0.120 10 77084649 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1566538321
rs1566538321
GJB6
1 1.000 0.120 13 20222994 frameshift variant G/- delins 0.700 0
dbSNP: rs199606180
rs199606180
MYO7A
3 0.882 0.200 11 77206120 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2014 2014
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: 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