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: rs121913049
rs121913049
ERCC4
4 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs121913050
rs121913050
ERCC4
3 0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
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: 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: rs267607591
rs267607591
LMNA
4 0.882 0.200 1 156135274 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs57077886
rs57077886
LMNA
9 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
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: rs57920071
rs57920071
LMNA
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 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: 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: 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: rs60934003
rs60934003
LMNA
3 0.882 0.160 1 156137213 missense variant T/C snv 0.020 1.000 2 2004 2008
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: 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: 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: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2013 2013
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: rs797044485
rs797044485
LMNA
4 0.851 0.160 1 156134832 missense variant G/A snv 0.700 1.000 1 2013 2013
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