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: rs104893823
rs104893823
TNNC1
5 0.882 0.040 3 52451285 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894205
rs104894205
CSRP3
3 0.882 0.040 11 19188286 missense variant A/G snv 1.2E-05 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs104894630
rs104894630
SCO1
4 0.882 0.120 17 10692805 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs104894725
rs104894725
TNNI3
3 0.882 0.080 19 55151851 missense variant T/C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1064793206
rs1064793206
MYH7
2 0.925 0.040 14 23424993 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs113188481
rs113188481
FHL2
1 1.000 0.040 2 105363443 missense variant C/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1157637439
rs1157637439
VARS2
4 0.882 0.120 6 30920187 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs116840799
rs116840799
CAV3 ; SSUH2
2 1.000 0.040 3 8745599 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1172063879
rs1172063879
ACACA
1 1.000 0.040 17 37259427 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1199713333
rs1199713333
CACNA1C
2 0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121908989
rs121908989
PRKAG2
4 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs121909378
rs121909378
MYBPC3
1 1.000 0.040 11 47332931 missense variant C/A;T snv 4.1E-06; 2.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs121913636
rs121913636
MYH7
2 0.925 0.080 14 23428540 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121913652
rs121913652
MYH7 ; MHRT
3 0.882 0.080 14 23414015 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121917758
rs121917758
HRAS ; LRRC56
4 0.851 0.160 11 533883 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2015 2015