Source: CURATED ×
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: rs104894503
rs104894503
TPM1
3 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 18 1994 2019
dbSNP: rs397516005
rs397516005
MYBPC3
3 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.760 1.000 0 2002 2019
dbSNP: rs104894724
rs104894724
TNNI3
4 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.740 1.000 28 1997 2016
dbSNP: rs121913624
rs121913624
MYH7
3 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.740 1.000 23 1990 2018
dbSNP: rs121913630
rs121913630
MYH7
3 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.740 1.000 18 1992 2020
dbSNP: rs104894369
rs104894369
MYL2
3 0.807 0.080 12 110914287 missense variant C/A;T snv 0.740 1.000 13 1998 2019
dbSNP: rs121964856
rs121964856
TNNT2
4 0.807 0.120 1 201365297 missense variant C/A;T snv 0.730 1.000 17 1994 2020
dbSNP: rs121913627
rs121913627
MYH7
3 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.730 1.000 15 1992 2010
dbSNP: rs397516074
rs397516074
MYBPC3
4 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.720 1.000 32 1998 2017
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: rs121913625
rs121913625
MYH7
3 0.851 0.080 14 23429005 missense variant G/A;C;T snv 0.720 1.000 24 1992 2018
dbSNP: rs36211715
rs36211715
MYH7
4 0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 16 1995 2017
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: rs375882485
rs375882485
MYBPC3
4 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.720 1.000 7 2003 2018
dbSNP: rs121908991
rs121908991
PRKAG2
2 0.807 0.120 7 151560610 missense variant C/A;T snv 0.720 1.000 4 2003 2017
dbSNP: rs148395034
rs148395034
TRIM63
1 0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05 0.720 0.500 0 2012 2014
dbSNP: rs573916965
rs573916965
MYBPC3
4 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.720 1.000 0 2008 2010
dbSNP: rs121918457
rs121918457
PTPN11
18 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 39 2002 2017
dbSNP: rs397516456
rs397516456
TNNT2
5 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.710 1.000 21 1996 2016
dbSNP: rs104894729
rs104894729
TNNI3
4 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 13 2003 2013
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: rs397516457
rs397516457
TNNT2
4 0.851 0.080 1 201365291 missense variant C/A;T snv 0.710 1.000 12 1999 2017
dbSNP: rs104894368
rs104894368
MYL2
3 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: rs267607125
rs267607125
TNNC1 ; NISCH
2 0.851 0.080 3 52453993 missense variant G/A snv 7.0E-06 0.710 1.000 11 2008 2018
dbSNP: rs397516357
rs397516357
TNNI3
4 0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06 0.710 0.909 11 2003 2017