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: rs199476320
rs199476320
TPM1
3 0.925 0.040 15 63064121 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs200484060
rs200484060
DSG2
4 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs28933090
rs28933090
LMNA
3 0.925 0.160 1 156115172 missense variant T/A;G snv 0.010 1.000 1 2001 2001
dbSNP: rs397516695
rs397516695
DES
4 0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs41261344
rs41261344
SCN5A
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs535039125
rs535039125
CYP2B6
5 0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs551837344
rs551837344
SYNM
1 15 99129975 missense variant T/C snv 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs58327533
rs58327533
LMNA
4 1.000 0.120 1 156114991 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs59026483
rs59026483
LMNA
7 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs63750743
rs63750743
TMEM43
4 0.925 0.080 3 14141665 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2007 2007
dbSNP: rs730881071
rs730881071
TNNI3
2 1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs746503158
rs746503158
MTG1
3 1.000 0.040 10 133420125 missense variant A/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs754428169
rs754428169
TJP1
3 0.925 0.120 15 29761670 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs761056344
rs761056344
PLN ; CEP85L
3 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs771753477
rs771753477
OPA3
1 19 45529234 missense variant A/C;G snv 4.1E-06; 4.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs794729145
rs794729145
RBM20
1 10 110797587 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs867770797
rs867770797
EDNRA
8 0.851 0.200 4 147519875 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.020 1.000 2 2001 2008
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2011 2017
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.020 1.000 2 2005 2013
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.030 1.000 3 2006 2013
dbSNP: rs41310765
rs41310765
SCN5A
5 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.030 1.000 3 2008 2014
dbSNP: rs104893823
rs104893823
TNNC1
5 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016