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: 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: rs104893823
rs104893823
TNNC1
5 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2013
dbSNP: rs104894505
rs104894505
TPM1
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2017
dbSNP: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.700 1.000 2 1999 2016
dbSNP: rs1071646
rs1071646
TPM1
1 1.000 0.040 15 63059641 splice region variant C/A snv 0.67 0.65 0.010 1.000 1 2015 2015
dbSNP: rs10880
rs10880
LTBP4
2 0.925 0.160 19 40622404 missense variant C/T snv 0.38 0.39 0.010 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs10927875
rs10927875
ZBTB17
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.020 1.000 2 2011 2013
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs11570113
rs11570113
MYBPC3
1 1.000 0.040 11 47333605 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2010 2010
dbSNP: rs1165819867
rs1165819867
LMNA
1 1.000 0.040 1 156134892 missense variant G/A;T snv 0.700 0
dbSNP: rs1175271580
rs1175271580
LMOD2
1 1.000 0.040 7 123662780 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs118204016
rs118204016
ACADVL ; MIR324
4 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2017
dbSNP: rs121434420
rs121434420
PKP2
5 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2012 2012
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: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 1999 1999
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1241664568
rs1241664568
PRDX5
1 1.000 0.040 11 64320661 missense variant A/G snv 1.4E-05 0.010 1.000 1 2011 2011
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: 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