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: 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: rs3218714
rs3218714
MYH7
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.710 1.000 8 1993 2017
dbSNP: rs397516260
rs397516260
MYH7
4 0.882 0.080 14 23431789 missense variant C/A;T snv 1.6E-05 0.710 1.000 8 2003 2017
dbSNP: rs727503246
rs727503246
MYH7 ; MIR208B
4 0.882 0.080 14 23418313 missense variant C/T snv 7.0E-06 0.710 1.000 7 2005 2017
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 0.833 6 2003 2013
dbSNP: rs121913633
rs121913633
MYH7
3 0.882 0.080 14 23431447 missense variant C/T snv 7.0E-06 0.710 1.000 6 1993 2009
dbSNP: rs730880750
rs730880750
MYH7
4 0.851 0.080 14 23424843 missense variant G/A;C;T snv 0.710 1.000 6 2000 2017
dbSNP: rs104894504
rs104894504
TPM1
2 0.925 0.080 15 63057028 missense variant T/C snv 0.710 1.000 4 2001 2011
dbSNP: rs397516406
rs397516406
MYL2
2 0.925 0.040 12 110911093 missense variant C/T snv 0.710 1.000 4 2008 2018
dbSNP: rs587782962
rs587782962
MYH7
2 0.925 0.080 14 23422267 missense variant C/T snv 6.4E-05 7.7E-05 0.710 1.000 3 2004 2017
dbSNP: rs727503503
rs727503503
TNNI3
5 0.827 0.120 19 55154070 missense variant C/T snv 0.710 1.000 3 2007 2016
dbSNP: rs727504246
rs727504246
TNNT2
5 0.827 0.080 1 201363330 missense variant G/A snv 0.710 1.000 3 2000 2004
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.710 1.000 3 2007 2016
dbSNP: rs730880742
rs730880742
MYH7
3 0.882 0.080 14 23424984 missense variant T/A;C;G snv 0.710 1.000 2 2003 2017
dbSNP: rs1060501436
rs1060501436
MYH7
2 0.925 0.040 14 23424815 missense variant A/G snv 0.710 1.000 1 2018 2018
dbSNP: rs121913634
rs121913634
MYH7
3 0.882 0.080 14 23425372 missense variant T/A;C snv 0.710 1.000 1 2011 2011
dbSNP: rs121964857
rs121964857
TNNT2
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.710 1.000 1 2003 2003
dbSNP: rs139794067
rs139794067
MYL3
3 0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04 0.710 < 0.001 1 2018 2018
dbSNP: rs199476305
rs199476305
TPM1
2 1.000 0.040 15 63044096 missense variant G/C snv 0.710 1.000 1 2005 2005
dbSNP: rs199476306
rs199476306
TPM1
3 0.882 0.080 15 63044100 missense variant C/T snv 0.710 1.000 1 1996 1996
dbSNP: rs516514
rs516514
FHOD3
1 1.000 0.040 18 36681085 intron variant C/T snv 0.49 0.710 1.000 1 2013 2013
dbSNP: rs730880870
rs730880870
MYH7
2 0.925 0.040 14 23429037 missense variant C/A;T snv 1.2E-05 2.8E-05 0.710 1.000 1 2012 2012
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: rs200411226
rs200411226
MYBPC3
4 0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05 0.700 1.000 22 1998 2017