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: rs397516201
rs397516201
MYH7 ; MIR208B
3 0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 12 2003 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: rs397515963
rs397515963
MYBPC3
4 0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05 0.700 1.000 11 1998 2015
dbSNP: rs397516347
rs397516347
TNNI3
5 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 1.000 11 2003 2017
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: rs121913637
rs121913637
MYH7
3 0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 0.700 1.000 10 1994 2017
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: rs727504239
rs727504239
MYH7
3 0.882 0.080 14 23427242 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 9 2011 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
dbSNP: rs121913650
rs121913650
MYH7 ; MHRT
2 0.925 0.080 14 23415652 missense variant G/A snv 7.0E-06 0.700 1.000 8 2005 2017
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
3 0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05 0.700 1.000 8 2008 2017
dbSNP: rs199476321
rs199476321
TPM1
3 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 8 2003 2017
dbSNP: rs2754158
rs2754158
MYH7
4 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 8 2004 2017
dbSNP: rs2856655
rs2856655
MYBPC3
4 0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05 0.700 1.000 8 2003 2014
dbSNP: rs3218714
rs3218714
MYH7
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.700 1.000 8 1990 2013
dbSNP: rs36211723
rs36211723
MYBPC3
5 0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05 0.700 1.000 8 2004 2015
dbSNP: rs387907267
rs387907267
MYBPC3
4 0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05 0.700 1.000 8 2009 2015
dbSNP: rs397515912
rs397515912
MYBPC3
3 0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05 0.700 1.000 8 2008 2017