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: rs113860699
rs113860699
LMNA
1 1.000 0.080 1 156138759 splice donor variant T/A;C;G snv 0.700 0
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
dbSNP: rs28928902
rs28928902
LMNA
4 0.851 0.160 1 156136951 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs386134243
rs386134243
LMNA
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
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: rs60652225
rs60652225
LMNA
4 0.851 0.200 1 156130679 missense variant T/C;G snv 0.700 0
dbSNP: rs797045011
rs797045011
LMNA
2 0.925 0.160 1 156135314 splice donor variant T/C snv 0.700 0
dbSNP: rs57318642
rs57318642
LMNA
4 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 0.820 1.000 13 2003 2013
dbSNP: rs58596362
rs58596362
LMNA
7 0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06 0.790 0.917 12 2003 2018
dbSNP: rs58912633
rs58912633
LMNA
5 0.851 0.240 1 156130688 missense variant C/G;T snv 0.730 1.000 12 2003 2015
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: rs60310264
rs60310264
LMNA
5 0.827 0.200 1 156130693 missense variant G/A snv 0.820 1.000 3 2003 2017
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: rs59267781
rs59267781
LMNA
4 0.851 0.120 1 156138657 missense variant C/G snv 0.720 1.000 3 2004 2016
dbSNP: rs60934003
rs60934003
LMNA
3 0.882 0.160 1 156137213 missense variant T/C snv 0.020 1.000 2 2004 2008
dbSNP: rs1553266460
rs1553266460
LMNA
1 1.000 0.080 1 156138483 splice donor variant GCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAGG/- delins 0.700 1.000 1 2004 2004
dbSNP: rs267607547
rs267607547
LMNA
1 1.000 0.080 1 156137664 missense variant T/C snv 0.710 1.000 2 2006 2014
dbSNP: rs57520892
rs57520892
LMNA
8 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs57629361
rs57629361
LMNA
5 0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.710 1.000 1 2006 2006
dbSNP: rs58571998
rs58571998
LMNA
2 0.925 0.160 1 156137197 frameshift variant -/CTGC delins 0.010 1.000 1 2006 2006
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: 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: 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: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.710 1.000 1 2008 2008