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: rs113994102
rs113994102
CTDP1
2 0.925 0.160 18 79710825 intron variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 < 0.001 1 2016 2016
dbSNP: rs80338933
rs80338933
SH3TC2
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.710 1.000 5 2003 2014
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: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.020 1.000 2 2003 2008
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: rs1060503021
rs1060503021
HSPB1
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
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: rs144183238
rs144183238
PRX
1 1.000 0.080 19 40397262 stop gained G/A snv 4.0E-05 4.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs1553259703
rs1553259703
MPZ
2 0.925 0.080 1 161306900 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs749850181
rs749850181
SH3TC2
1 1.000 0.080 5 149028348 stop gained C/A snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs776757548
rs776757548
MTMR2
5 0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs797044846
rs797044846
PMP22
2 0.925 0.160 17 15259155 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs80338934
rs80338934
SH3TC2
4 0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2013 2013
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: rs372000714
rs372000714
IGHMBP2
3 0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.760 1.000 6 1999 2004
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
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.050 1.000 5 2002 2018
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.040 1.000 4 2003 2011
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
dbSNP: rs59885338
rs59885338
LMNA
4 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.730 1.000 3 2003 2008