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: rs121913625
rs121913625
MYH7
4 0.851 0.080 14 23429005 missense variant G/A;C;T snv 0.700 1.000 19 1992 2014
dbSNP: rs121913632
rs121913632
MYH7
3 0.882 0.080 14 23425760 missense variant C/A;G;T snv 0.700 1.000 19 1985 2017
dbSNP: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.730 1.000 17 1997 2017
dbSNP: rs121913626
rs121913626
MYH7
3 0.882 0.080 14 23427723 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 17 1992 2018
dbSNP: rs397516354
rs397516354
TNNI3
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 17 1997 2017
dbSNP: rs36211715
rs36211715
MYH7
5 0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 16 1995 2017
dbSNP: rs121913627
rs121913627
MYH7
8 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 15 1992 2014
dbSNP: rs397515905
rs397515905
MYBPC3
5 0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 15 1998 2017
dbSNP: rs121913624
rs121913624
MYH7
4 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.710 1.000 14 1990 2018
dbSNP: rs397516127
rs397516127
MYH7
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 1.000 14 1999 2019
dbSNP: rs121913630
rs121913630
MYH7
7 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.710 1.000 13 1992 2018
dbSNP: rs121913638
rs121913638
MYH7
4 0.851 0.120 14 23425980 missense variant C/T snv 0.700 1.000 13 1994 2017
dbSNP: rs121913641
rs121913641
MYH7
3 0.882 0.080 14 23425970 missense variant C/G;T snv 0.700 1.000 13 1994 2013
dbSNP: rs397516068
rs397516068
MYBPC3
3 0.882 0.080 11 47348541 missense variant C/A;G snv 4.1E-06 0.700 1.000 12 2004 2017
dbSNP: rs397516353
rs397516353
TNNI3
3 0.882 0.080 19 55154109 missense variant G/A snv 0.700 1.000 12 2003 2017
dbSNP: rs121909374
rs121909374
MYBPC3
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 11 1997 2017
dbSNP: rs397515937
rs397515937
MYBPC3
4 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 11 1995 2014
dbSNP: rs727503278
rs727503278
MYH7
3 0.882 0.080 14 23432714 missense variant G/A;C;T snv 2.8E-05 0.700 1.000 11 2001 2017
dbSNP: rs104894729
rs104894729
TNNI3
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.700 1.000 10 2003 2015
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 1.000 10 1999 2014
dbSNP: rs727503261
rs727503261
MYH7
3 0.882 0.080 14 23425774 missense variant A/G;T snv 0.700 1.000 10 2003 2015
dbSNP: rs199476315
rs199476315
TPM1
5 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 9 2003 2016
dbSNP: rs397516088
rs397516088
MYH7
4 0.882 0.080 14 23429850 missense variant C/G;T snv 0.700 1.000 9 2003 2019
dbSNP: rs727503166
rs727503166
MYBPC3
5 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 9 2008 2017
dbSNP: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 1.000 8 1992 2017