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: rs150793926
rs150793926
CACNB4
1 1.000 0.040 2 151924550 intron variant TA/-;TATA;TATATA delins 0.700 1.000 1 2018 2018
dbSNP: rs267607572
rs267607572
LMNA
1 1.000 0.040 1 156134518 missense variant T/G snv 0.700 1.000 17 1999 2012
dbSNP: rs1009977
rs1009977
LGALS3
2 1.000 0.040 14 55136284 intron variant T/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs121909298
rs121909298
SGCD
4 0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs267607130
rs267607130
TNNI3
2 0.925 0.040 19 55157052 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs28357094
rs28357094
SPP1
3 0.882 0.160 4 87975645 non coding transcript exon variant T/G snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs177415
rs177415
PSEN1
2 1.000 0.040 14 73211255 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs755559514
rs755559514
APLN
3 0.925 0.040 X 129648648 missense variant T/C;G snv 1.2E-05; 6.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs730882262
rs730882262
LMNA
4 0.851 0.160 1 156135293 missense variant T/C;G snv 0.700 0
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.720 1.000 18 1999 2019
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.030 1.000 3 2010 2016
dbSNP: rs61295588
rs61295588
LMNA
2 0.925 0.160 1 156134809 missense variant T/C snv 0.700 1.000 3 2013 2017
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 0.500 2 1997 2007
dbSNP: rs1266360671
rs1266360671
RYR2
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1298494952
rs1298494952
TTN
2 1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137852764
rs137852764
CSRP3
1 1.000 0.040 11 19188211 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1384750266
rs1384750266
TNNI3
1 1.000 0.040 19 55154199 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1462311598
rs1462311598
DMD
1 1.000 0.040 X 32390180 missense variant T/C snv 5.5E-06 0.010 1.000 1 2004 2004
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1805015
rs1805015
IL4R
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2234962
rs2234962
BAG3
3 1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 0.010 1.000 1 2011 2011
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2014 2014
dbSNP: rs397514507
rs397514507
BAG3
2 0.925 0.040 10 119676939 missense variant T/C snv 0.010 1.000 1 2011 2011