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: rs281865137
rs281865137
EGR2
4 0.851 0.080 10 62813496 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs281865139
rs281865139
EGR2
2 0.925 0.080 10 62813478 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs372491511
rs372491511
EGR2
1 1.000 0.080 10 62814078 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs138034837
rs138034837
FXN
2 0.925 0.120 9 69072622 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs137852646
rs137852646
GARS1
2 0.925 0.080 7 30628598 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs104894075
rs104894075
GDAP1
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.020 1.000 2 2003 2011
dbSNP: rs104894077
rs104894077
GDAP1
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.020 1.000 2 2010 2017
dbSNP: rs104894078
rs104894078
GDAP1
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.720 1.000 2 2010 2015
dbSNP: rs1476856429
rs1476856429
GDAP1
3 0.882 0.080 8 74364057 missense variant A/G snv 1.2E-05 7.0E-06 0.020 1.000 2 2011 2018
dbSNP: rs104894080
rs104894080
GDAP1
9 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1131691282
rs1131691282
GDAP1
1 1.000 0.080 8 74361935 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121908113
rs121908113
GDAP1
2 0.925 0.080 8 74363011 missense variant C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs397515432
rs397515432
GDAP1
3 0.882 0.080 8 74364270 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs397515442
rs397515442
GDAP1
4 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs756461496
rs756461496
GDAP1
2 0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs886041386
rs886041386
GDAP1
1 1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs104894814
rs104894814
GJB1
2 0.925 0.080 X 71224365 stop gained C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894822
rs104894822
GJB1
2 0.925 0.080 X 71224321 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs104894826
rs104894826
GJB1
3 0.882 0.080 X 71224114 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1555937122
rs1555937122
GJB1
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1555937009
rs1555937009
GJB1
1 1.000 0.080 X 71223757 missense variant C/G snv 0.700 0
dbSNP: rs199615251
rs199615251
GNB4
2 0.925 0.080 3 179413452 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs387907340
rs387907340
GNB4
2 0.925 0.080 3 179419444 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1176654400
rs1176654400
HK1
2 0.925 0.080 10 69359951 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587781250
rs587781250
HSPB1
1 1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05 0.700 1.000 5 2004 2014