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: 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: rs1557522794
rs1557522794
MFN2
1 1.000 0.080 1 11997295 splice acceptor variant A/G snv 0.700 1.000 3 2006 2016
dbSNP: rs267607573
rs267607573
LMNA
2 1.000 0.080 1 156134865 stop gained C/T snv 0.700 1.000 3 2008 2017
dbSNP: rs28933093
rs28933093
LMNA
5 0.882 0.160 1 156130741 missense variant G/A snv 0.700 1.000 3 2013 2018
dbSNP: rs397517912
rs397517912
LMNA
1 1.000 0.080 1 156135244 missense variant G/A snv 0.700 1.000 3 2014 2018
dbSNP: rs57508089
rs57508089
LMNA
3 1.000 0.080 1 156136110 synonymous variant C/T snv 0.700 1.000 3 2007 2016
dbSNP: rs57983345
rs57983345
LMNA
6 0.851 0.160 1 156115034 missense variant A/G snv 0.700 1.000 3 2007 2011
dbSNP: rs59885338
rs59885338
LMNA
4 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 3 2004 2008
dbSNP: rs59914820
rs59914820
LMNA
3 0.925 0.160 1 156115000 missense variant C/G;T snv 0.700 1.000 3 2002 2011
dbSNP: rs864309525
rs864309525
LMNA
3 0.925 0.120 1 156115007 inframe deletion GAG/- delins 0.700 1.000 3 2012 2017
dbSNP: rs1553143890
rs1553143890
MFN2
1 1.000 0.080 1 12001555 splice donor variant G/T snv 0.700 1.000 2 2006 2016
dbSNP: rs1553265606
rs1553265606
LMNA
1 1.000 0.080 1 156135900 splice acceptor variant G/A snv 0.700 1.000 2 2008 2008
dbSNP: rs1553265760
rs1553265760
LMNA
1 1.000 0.080 1 156136106 frameshift variant A/- del 0.700 1.000 2 2011 2012
dbSNP: rs1553265924
rs1553265924
LMNA
1 1.000 0.080 1 156136438 splice donor variant T/G snv 0.700 1.000 2 2008 2008
dbSNP: rs267607552
rs267607552
LMNA
1 1.000 0.080 1 156136437 splice donor variant G/A;T snv 0.700 1.000 2 2008 2008
dbSNP: rs267607554
rs267607554
LMNA
3 1.000 0.080 1 156135925 stop gained C/T snv 0.700 1.000 2 2008 2016
dbSNP: rs267607557
rs267607557
LMNA
1 1.000 0.080 1 156137182 missense variant T/C;G snv 0.700 1.000 2 2017 2018
dbSNP: rs267607620
rs267607620
LMNA
2 0.925 0.120 1 156114929 missense variant C/G;T snv 6.0E-06 0.700 1.000 2 2009 2014
dbSNP: rs267607637
rs267607637
LMNA
2 0.925 0.120 1 156136402 missense variant G/A snv 0.700 1.000 2 2014 2015
dbSNP: rs267607646
rs267607646
LMNA
2 1.000 0.080 1 156115265 frameshift variant -/G delins 0.700 1.000 2 2009 2012
dbSNP: rs28940294
rs28940294
MFN2
3 0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 0.700 1.000 2 2004 2006
dbSNP: rs57629361
rs57629361
LMNA
5 0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.700 1.000 2 2003 2014
dbSNP: rs773159585
rs773159585
MFN2
4 0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06 0.700 1.000 2 2005 2014
dbSNP: rs869125101
rs869125101
LMNA
2 1.000 0.080 1 156134529 splice donor variant G/A;C snv 0.700 1.000 2 2008 2008