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: rs60872029
rs60872029
LMNA
2 0.925 0.120 1 156115010 inframe deletion AAG/- delins 0.700 1.000 7 2002 2014
dbSNP: rs61444459
rs61444459
LMNA
5 0.851 0.160 1 156137667 missense variant G/A;C snv 0.700 1.000 7 2000 2017
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: rs61195471
rs61195471
LMNA
6 0.827 0.160 1 156134496 missense variant G/A snv 0.700 1.000 6 1999 2012
dbSNP: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 5 2003 2014
dbSNP: rs267607578
rs267607578
LMNA
3 0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 0.700 1.000 5 2007 2017
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: rs28933091
rs28933091
LMNA
4 0.882 0.160 1 156134474 missense variant C/A;G snv 0.700 1.000 5 2001 2013
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: rs58932704
rs58932704
LMNA
8 0.776 0.200 1 156136413 missense variant C/T snv 0.700 1.000 5 1991 2011
dbSNP: rs59332535
rs59332535
LMNA
5 0.827 0.160 1 156134911 missense variant G/A snv 0.700 1.000 5 2000 2014
dbSNP: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.700 1.000 5 1990 2014
dbSNP: rs60864230
rs60864230
LMNA
7 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 5 2001 2005
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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 4 2000 2013
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: rs267607570
rs267607570
LMNA
2 0.925 0.120 1 156130757 missense variant G/A;C snv 4.8E-05 0.700 1.000 4 2008 2015
dbSNP: rs386134243
rs386134243
LMNA
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 1.000 4 2012 2017
dbSNP: rs56816490
rs56816490
LMNA
4 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 4 2002 2017
dbSNP: rs59270054
rs59270054
LMNA
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.700 1.000 4 2006 2010
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