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: rs121913637
rs121913637
MYH7
3 0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 0.720 1.000 30 1994 2018
dbSNP: rs121913624
rs121913624
MYH7
4 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.740 1.000 26 1990 2018
dbSNP: rs121913625
rs121913625
MYH7
4 0.851 0.080 14 23429005 missense variant G/A;C;T snv 0.720 1.000 25 1992 2018
dbSNP: rs121913632
rs121913632
MYH7
3 0.882 0.080 14 23425760 missense variant C/A;G;T snv 0.700 1.000 22 1993 2017
dbSNP: rs121964856
rs121964856
TNNT2
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.730 1.000 18 1994 2020
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.740 1.000 17 1998 2019
dbSNP: rs397516127
rs397516127
MYH7
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 1.000 16 1999 2016
dbSNP: rs3218713
rs3218713
MYH7
10 0.763 0.160 14 23431468 missense variant C/A;T snv 0.700 1.000 15 1991 2017
dbSNP: rs104894729
rs104894729
TNNI3
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 13 2003 2013
dbSNP: rs121913631
rs121913631
MYH7
3 0.882 0.080 14 23424107 missense variant G/C snv 1.4E-05 0.720 1.000 13 1992 2017
dbSNP: rs121913641
rs121913641
MYH7
3 0.882 0.080 14 23425970 missense variant C/G;T snv 0.710 1.000 13 1994 2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 1.000 13 2002 2017
dbSNP: rs121913638
rs121913638
MYH7
4 0.851 0.120 14 23425980 missense variant C/T snv 0.700 1.000 12 1994 2017
dbSNP: rs267607125
rs267607125
TNNC1 ; NISCH
4 0.851 0.080 3 52453993 missense variant G/A snv 7.0E-06 0.710 1.000 12 2008 2018
dbSNP: rs397515937
rs397515937
MYBPC3
4 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 12 1995 2014
dbSNP: rs397516457
rs397516457
TNNT2
4 0.851 0.080 1 201365291 missense variant C/A;T snv 0.710 1.000 12 1999 2017
dbSNP: rs397516463
rs397516463
TNNT2
4 0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05 0.700 1.000 12 1996 2017
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 2014
dbSNP: rs397516357
rs397516357
TNNI3
5 0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06 0.710 0.909 11 2003 2017
dbSNP: rs727503260
rs727503260
MYH7
4 0.851 0.080 14 23425403 missense variant C/G;T snv 0.710 1.000 11 2003 2019
dbSNP: rs199476315
rs199476315
TPM1
5 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 10 2003 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs111377893
rs111377893
TNNT2
2 0.925 0.080 1 201359622 splice donor variant C/A;G;T snv 0.700 1.000 9 1994 2011
dbSNP: rs397515947
rs397515947
MYBPC3
2 1.000 0.040 11 47339376 frameshift variant G/- delins 0.700 1.000 9 1998 2017