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: 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: rs397516209
rs397516209
MYH7
3 0.882 0.080 14 23432713 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 13 2001 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: rs74315379
rs74315379
TNNT2
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.700 1.000 12 2001 2013
dbSNP: rs104894368
rs104894368
MYL2
4 0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05 0.710 1.000 11 1996 2016
dbSNP: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 11 2001 2013
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.700 1.000 11 1993 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 0.710 1.000 11 1995 2016
dbSNP: rs397516000
rs397516000
MYBPC3
3 0.882 0.080 11 47333682 missense variant C/G;T snv 2.4E-05; 4.1E-06 0.700 1.000 11 2005 2017
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: rs371898076
rs371898076
MYH7
9 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 10 1999 2017
dbSNP: rs376395543
rs376395543
MYBPC3
3 0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05 0.700 1.000 10 2004 2016
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 10 2003 2015
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: rs2856655
rs2856655
MYBPC3
4 0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05 0.700 1.000 9 2003 2016