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: rs267607649
rs267607649
LMNA
1 1.000 0.080 1 156130672 missense variant G/A snv 0.700 1.000 10 2003 2013
dbSNP: rs79907212
rs79907212
LMNA
2 0.925 0.080 1 156135275 missense variant A/C;G snv 0.700 1.000 10 2003 2013
dbSNP: rs267607547
rs267607547
LMNA
1 1.000 0.080 1 156137664 missense variant T/C snv 0.710 1.000 2 2006 2014
dbSNP: rs59886214
rs59886214
LMNA
1 1.000 0.080 1 156138610 splice region variant G/A snv 0.710 1.000 2 2007 2012
dbSNP: rs139983160
rs139983160
EMD
2 1.000 0.080 X 154380781 missense variant C/T snv 2.1E-04 2.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs1445485038
rs1445485038
SPHKAP ; LOC105373918
1 1.000 0.080 2 228025407 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1553266460
rs1553266460
LMNA
1 1.000 0.080 1 156138483 splice donor variant GCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAGG/- delins 0.700 1.000 1 2004 2004
dbSNP: rs61064130
rs61064130
LMNA
1 1.000 0.080 1 156138611 missense variant G/A;T snv 0.700 1.000 1 2003 2003
dbSNP: rs767348594
rs767348594
SRSF6
1 1.000 0.080 20 43460532 missense variant G/A snv 3.6E-05 1.4E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs797044486
rs797044486
LMNA
1 1.000 0.080 1 156138560 missense variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs797044487
rs797044487
LMNA
2 0.925 0.080 1 156138757 splice region variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs797044488
rs797044488
LMNA
2 0.925 0.080 1 156138762 splice region variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs113860699
rs113860699
LMNA
1 1.000 0.080 1 156138759 splice donor variant T/A;C;G snv 0.700 0
dbSNP: rs1190613858
rs1190613858
LMNA
3 0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06 0.060 1.000 6 2011 2016
dbSNP: rs59267781
rs59267781
LMNA
4 0.851 0.120 1 156138657 missense variant C/G snv 0.720 1.000 3 2004 2016
dbSNP: rs770850320
rs770850320
SREBF1
3 0.882 0.120 17 17816960 missense variant G/A snv 2.0E-05 2.8E-05 0.010 1.000 1 2011 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 0
dbSNP: rs60934003
rs60934003
LMNA
3 0.882 0.160 1 156137213 missense variant T/C snv 0.020 1.000 2 2004 2008
dbSNP: rs113436208
rs113436208
LMNA
2 0.925 0.160 1 156138758 splice donor variant G/A;C snv 0.700 1.000 1 2007 2007
dbSNP: rs202080674
rs202080674
ERCC6
4 0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs56673169
rs56673169
LMNA
2 0.925 0.160 1 156137671 missense variant G/C snv 0.710 1.000 1 2011 2011
dbSNP: rs58571998
rs58571998
LMNA
2 0.925 0.160 1 156137197 frameshift variant -/CTGC delins 0.010 1.000 1 2006 2006
dbSNP: rs797044485
rs797044485
LMNA
4 0.851 0.160 1 156134832 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs28928902
rs28928902
LMNA
4 0.851 0.160 1 156136951 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs797045011
rs797045011
LMNA
2 0.925 0.160 1 156135314 splice donor variant T/C snv 0.700 0