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: rs879254011
rs879254011
MFN2
1 1.000 0.080 1 12002034 missense variant G/A;C snv 0.700 1.000 15 2006 2017
dbSNP: rs863224069
rs863224069
MFN2
1 1.000 0.080 1 11996158 missense variant C/T snv 0.700 1.000 12 2004 2016
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.700 1.000 11 2008 2015
dbSNP: rs1553265342
rs1553265342
LMNA
1 1.000 0.080 1 156134909 missense variant GC/TT mnv 0.700 1.000 11 2000 2015
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 11 2004 2014
dbSNP: rs755065651
rs755065651
MFN2
1 1.000 0.080 1 11999055 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 9 2009 2016
dbSNP: rs863224967
rs863224967
MFN2
1 1.000 0.080 1 12002069 missense variant A/G;T snv 4.0E-06 0.700 1.000 9 2006 2017
dbSNP: rs1553142428
rs1553142428
MFN2
1 1.000 0.080 1 11996157 missense variant A/G snv 0.700 1.000 8 2004 2014
dbSNP: rs863224970
rs863224970
MFN2
1 1.000 0.080 1 11997316 missense variant A/G snv 0.700 1.000 8 2005 2016
dbSNP: rs28940293
rs28940293
MFN2
3 0.882 0.080 1 11992606 missense variant T/C;G snv 8.0E-06 0.700 1.000 7 1997 2014
dbSNP: rs587777875
rs587777875
MFN2
1 1.000 0.080 1 11999054 missense variant C/T snv 0.700 1.000 7 2009 2015
dbSNP: rs119103262
rs119103262
MFN2
1 1.000 0.080 1 11997315 missense variant C/G;T snv 0.700 1.000 6 2006 2016
dbSNP: rs137852643
rs137852643
GARS1
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.700 1.000 6 2006 2016
dbSNP: rs267607592
rs267607592
LMNA
2 1.000 0.080 1 156137233 splice donor variant G/A snv 0.700 1.000 5 2005 2014
dbSNP: rs387906990
rs387906990
MFN2
2 0.925 0.080 1 11998817 missense variant T/C snv 4.0E-06 4.2E-05 0.700 1.000 5 2005 2011
dbSNP: rs58013325
rs58013325
LMNA
3 1.000 0.080 1 156137144 frameshift variant -/C delins 0.700 1.000 5 2011 2017
dbSNP: rs794728591
rs794728591
LMNA
2 1.000 0.080 1 156134811 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 5 2013 2018
dbSNP: rs794728598
rs794728598
LMNA
1 1.000 0.080 1 156114921 start lost G/A;C;T snv 0.700 1.000 5 2007 2011
dbSNP: rs879253777
rs879253777
MFN2
2 0.925 0.080 1 11999009 missense variant G/A;T snv 0.710 1.000 5 2005 2016
dbSNP: rs1228406418
rs1228406418
LMNA
1 1.000 0.080 1 156115009 missense variant G/A snv 0.700 1.000 4 2012 2017
dbSNP: rs1557525153
rs1557525153
MFN2
1 1.000 0.080 1 11999031 missense variant C/G snv 0.700 1.000 4 2004 2013
dbSNP: rs794728589
rs794728589
LMNA
2 1.000 0.080 1 156115275 splice donor variant G/A;C snv 0.700 1.000 4 2008 2013
dbSNP: rs886043109
rs886043109
LMNA
1 1.000 0.080 1 156115001 missense variant G/A snv 0.700 1.000 4 2002 2011
dbSNP: rs1553144086
rs1553144086
MFN2
1 1.000 0.080 1 12002104 splice donor variant G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs1554338262
rs1554338262
GARS1
1 1.000 0.080 7 30612215 missense variant T/A snv 0.700 1.000 3 2006 2014