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: rs116840817
rs116840817
GJB1
3 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121909088
rs121909088
DNM2
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs121909113
rs121909113
HSPB1
3 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs12786200
rs12786200
FAT3
3 1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs13417783
rs13417783 		3 0.925 0.120 2 166773339 regulatory region variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs137852643
rs137852643
GARS1
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs17032980
rs17032980 		3 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs1858826
rs1858826
GNGT1
3 1.000 0.080 7 93719703 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs267606772
rs267606772
DNM2
3 0.925 0.080 19 10793799 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs4463516
rs4463516 		3 1.000 0.120 9 32867483 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs557327165
rs557327165
HSPB1
3 0.925 0.080 7 76302828 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs7818688
rs7818688
NDUFAF6
3 1.000 0.120 8 95011854 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs863225023
rs863225023
HSPB1
3 0.925 0.080 7 76304078 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs875858
rs875858
VAC14
3 1.000 0.080 16 70741552 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs57105105
rs57105105
NEFL ; MIR6841
4 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
4 0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03 0.010 1.000 1 2009 2009
dbSNP: rs1934951
rs1934951
CYP2C8
4 0.925 0.160 10 95038791 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs397515442
rs397515442
GDAP1
4 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs587777383
rs587777383
ACTG2
4 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs770272088
rs770272088
HSPB1
4 0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06 0.010 1.000 1 2013 2013
dbSNP: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121913590
rs121913590
MPZ
5 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.020 1.000 2 2006 2012
dbSNP: rs104894075
rs104894075
GDAP1
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010