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: 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: rs9657362
rs9657362
ARHGEF10
3 0.882 0.120 8 1885635 missense variant G/C;T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs17683288
rs17683288
ARHGEF10
2 0.925 0.080 8 1929314 missense variant T/G snv 5.4E-02 5.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2294039
rs2294039
ARHGEF10
2 0.925 0.080 8 1909425 missense variant G/A snv 3.1E-02 3.1E-02 0.010 1.000 1 2015 2015
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: rs145770066
rs145770066
MED25 ; MIR6800
4 0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03 0.710 1.000 1 2009 2009
dbSNP: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.700 1.000 2 2008 2014
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: rs62636522
rs62636522
NEFL
1 1.000 0.080 8 24955877 missense variant G/A;C snv 4.1E-06; 7.2E-04 0.010 1.000 1 2006 2006
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
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: rs73982299
rs73982299
ACACA
1 1.000 0.080 17 37274293 missense variant C/T snv 2.3E-04 9.3E-04 0.010 1.000 1 2020 2020
dbSNP: rs199927590
rs199927590
DNM2
1 1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 0.700 1.000 1 2014 2014
dbSNP: rs202176679
rs202176679
MPZ
1 1.000 0.080 1 161306116 missense variant C/G;T snv 9.5E-05; 1.6E-05 0.010 1.000 1 2010 2010
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: rs137852667
rs137852667
IGHMBP2
3 0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05 0.700 0
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: 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: 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
dbSNP: rs781249411
rs781249411
MARS1
2 0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05 0.700 0
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: rs776497952
rs776497952
DHTKD1
1 1.000 0.080 10 12117722 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs756880678
rs756880678
LRSAM1
2 0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05 0.700 0
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: rs587777712
rs587777712
ARHGEF10
1 1.000 0.080 8 1882687 missense variant G/A;C snv 1.8E-05 0.700 1.000 1 2014 2014