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: rs60458016
rs60458016
LMNA
5 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 1.000 8 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: rs56816490
rs56816490
LMNA
4 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 4 2002 2017
dbSNP: rs267607573
rs267607573
LMNA
2 1.000 0.080 1 156134865 stop gained C/T snv 0.700 1.000 3 2008 2017
dbSNP: rs267607554
rs267607554
LMNA
3 1.000 0.080 1 156135925 stop gained C/T snv 0.700 1.000 2 2008 2016
dbSNP: rs587777606
rs587777606
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
6 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2013 2015
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: rs267607618
rs267607618
LMNA
2 1.000 0.080 1 156136350 stop gained C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs267607623
rs267607623
LMNA
1 1.000 0.080 1 156136021 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs137852975
rs137852975
BSCL2 ; HNRNPUL2-BSCL2
5 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1553264593
rs1553264593
LMNA
1 1.000 0.080 1 156130651 stop gained C/T snv 0.700 0
dbSNP: rs1553265165
rs1553265165
LMNA
1 1.000 0.080 1 156134481 stop gained C/T snv 0.700 0
dbSNP: rs1553265455
rs1553265455
LMNA
1 1.000 0.080 1 156135253 stop gained C/T snv 0.700 0
dbSNP: rs1557539119
rs1557539119
MFN2
1 1.000 0.080 1 12011542 stop gained C/T snv 0.700 0
dbSNP: rs1558115754
rs1558115754
LMNA
1 1.000 0.080 1 156114922 stop gained G/T snv 0.700 0
dbSNP: rs267607561
rs267607561
LMNA
1 1.000 0.080 1 156136240 stop gained C/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs267607617
rs267607617
LMNA
1 1.000 0.080 1 156136027 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs863224968
rs863224968
MFN2
1 1.000 0.080 1 12011547 stop gained C/A;G;T snv 0.700 0
dbSNP: rs878855234
rs878855234
LMNA
1 1.000 0.080 1 156135304 stop gained C/T snv 0.700 0
dbSNP: rs879254210
rs879254210
MFN2
1 1.000 0.080 1 11998873 stop gained C/G;T snv 0.700 0
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: rs56984562
rs56984562
LMNA
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.700 1.000 14 2003 2017
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.700 1.000 12 2004 2015
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