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: rs1553265606
rs1553265606
LMNA
1 1.000 0.080 1 156135900 splice acceptor variant G/A snv 0.700 1.000 2 2008 2008
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: rs869125101
rs869125101
LMNA
2 1.000 0.080 1 156134529 splice donor variant G/A;C snv 0.700 1.000 2 2008 2008
dbSNP: rs267607618
rs267607618
LMNA
2 1.000 0.080 1 156136350 stop gained C/T snv 0.700 1.000 1 2009 2009
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: rs1060502215
rs1060502215
LMNA
2 0.925 0.120 1 156115040 missense variant G/A;T snv 0.700 1.000 1 2010 2010
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: rs58932704
rs58932704
LMNA
8 0.776 0.200 1 156136413 missense variant C/T snv 0.700 1.000 5 1991 2011
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: rs886043109
rs886043109
LMNA
1 1.000 0.080 1 156115001 missense variant G/A snv 0.700 1.000 4 2002 2011
dbSNP: rs57983345
rs57983345
LMNA
6 0.851 0.160 1 156115034 missense variant A/G snv 0.700 1.000 3 2007 2011
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: rs1060501915
rs1060501915
MFN2
1 1.000 0.080 1 11998842 frameshift variant TGGTGGC/- delins 0.700 1.000 1 2011 2011
dbSNP: rs61195471
rs61195471
LMNA
6 0.827 0.160 1 156134496 missense variant G/A snv 0.700 1.000 6 1999 2012
dbSNP: rs1553265760
rs1553265760
LMNA
1 1.000 0.080 1 156136106 frameshift variant A/- del 0.700 1.000 2 2011 2012
dbSNP: rs267606621
rs267606621
AARS1
3 0.882 0.080 16 70268356 missense variant C/T snv 0.700 1.000 2 2010 2012
dbSNP: rs267607646
rs267607646
LMNA
2 1.000 0.080 1 156115265 frameshift variant -/G delins 0.700 1.000 2 2009 2012
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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 4 2000 2013
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: rs1060502211
rs1060502211
LMNA
1 1.000 0.080 1 156135952 stop gained G/A;T snv 0.700 1.000 1 2013 2013
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: rs397517889
rs397517889
LMNA
3 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 1.000 9 2003 2014