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: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2001 2001
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs397514677
rs397514677
STIM1
6 0.851 0.400 11 4023928 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs57983345
rs57983345
LMNA
6 0.851 0.160 1 156115034 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs750174047
rs750174047
DNAH8
3 1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs1373219981
rs1373219981
ATP13A2
2 1 17011736 start lost C/A snv 1.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs121908893
rs121908893
SLC22A5
3 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs764959600
rs764959600
PLA2G6
3 1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1405183655
rs1405183655
FA2H
2 16 74719132 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs757725417
rs757725417
IMMT
3 2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs117184249
rs117184249
SYNE1
3 1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs121434589
rs121434589
MYH2 ; MYHAS
8 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121908211
rs121908211
CACNA1A
5 0.882 0.080 19 13371744 missense variant C/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs137853306
rs137853306
TPM2
6 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs199474714
rs199474714
TPM3
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs369447743
rs369447743
METTL8 ; DCAF17
2 2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs75586164
rs75586164
SMN2
4 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 < 0.001 1 2014 2014
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006