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: rs1037610094
rs1037610094
ADRA1A
1 1.000 0.080 8 26864491 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2013 2013
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: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs104894159
rs104894159
EGR2
5 0.827 0.080 10 62813413 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs104894161
rs104894161
EGR2
6 0.807 0.080 10 62813563 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs104894623
rs104894623
PMP22
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs104894706
rs104894706
PRX
2 0.925 0.080 19 40397766 stop gained G/A;C;T snv 0.010 1.000 1 2001 2001
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: 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: rs1060503021
rs1060503021
HSPB1
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs1131691282
rs1131691282
GDAP1
1 1.000 0.080 8 74361935 missense variant C/A snv 0.010 1.000 1 2011 2011
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: rs1179887323
rs1179887323
AARS2 ; TMEM151B
1 1.000 0.080 6 44307303 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs119103267
rs119103267
MFN2
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs119483085
rs119483085
NDRG1
5 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121908113
rs121908113
GDAP1
2 0.925 0.080 8 74363011 missense variant C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs121909088
rs121909088
DNM2
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs121913599
rs121913599
MPZ
3 0.882 0.080 1 161306763 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs121913608
rs121913608
MPZ
2 0.925 0.080 1 161306789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918054
rs121918054
POLG
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.010 1.000 1 2019 2019