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: rs397515947
rs397515947
MYBPC3
2 1.000 0.040 11 47339376 frameshift variant G/- delins 0.700 1.000 9 1998 2017
dbSNP: rs727503185
rs727503185
MYBPC3
1 1.000 0.040 11 47337420 missense variant C/T snv 4.1E-06 1.4E-05 0.700 1.000 7 2008 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: rs397516103
rs397516103
MYH7
1 1.000 0.040 14 23428992 missense variant A/C;G snv 4.0E-06 1.4E-05 0.700 1.000 6 2011 2017
dbSNP: rs397516038
rs397516038
MYBPC3
1 1.000 0.040 11 47332151 frameshift variant G/- delins 0.700 1.000 5 2010 2017
dbSNP: rs397516132
rs397516132
MYH7
1 1.000 0.040 14 23426021 missense variant A/T snv 0.700 1.000 5 2011 2017
dbSNP: rs727504275
rs727504275
TNNI3
2 0.925 0.040 19 55151856 missense variant C/A;T snv 4.0E-06 0.700 1.000 5 2005 2010
dbSNP: rs730880875
rs730880875
MYH7
1 1.000 0.040 14 23428601 missense variant T/A;C snv 0.700 1.000 5 2007 2017
dbSNP: rs730880922
rs730880922
MYH7
1 1.000 0.040 14 23431474 missense variant A/C snv 0.700 1.000 5 2009 2017
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.040 1.000 4 2019 2019
dbSNP: rs397516128
rs397516128
MYH7
1 1.000 0.040 14 23426057 missense variant A/G snv 0.700 1.000 4 2011 2017
dbSNP: rs397516406
rs397516406
MYL2
2 0.925 0.040 12 110911093 missense variant C/T snv 0.710 1.000 4 2008 2018
dbSNP: rs104894204
rs104894204
CSRP3
4 0.882 0.040 11 19188245 missense variant A/C snv 0.030 1.000 3 2004 2018
dbSNP: rs1060501484
rs1060501484
MYBPC3
1 1.000 0.040 11 47332576 frameshift variant C/- delins 0.700 1.000 3 2013 2017
dbSNP: rs193922387
rs193922387
MYH7
1 1.000 0.040 14 23424794 inframe deletion TCT/- delins 0.700 1.000 3 2003 2017
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.030 1.000 3 2002 2005
dbSNP: rs200889953
rs200889953
ALPK3
1 1.000 0.040 15 84839087 stop gained C/T snv 0.700 1.000 3 2012 2016
dbSNP: rs267607128
rs267607128
TNNI3
3 0.882 0.040 19 55157097 missense variant G/A snv 0.030 1.000 3 2012 2016
dbSNP: rs397516134
rs397516134
MYH7
1 1.000 0.040 14 23426003 missense variant C/A;G snv 0.700 1.000 3 2014 2017
dbSNP: rs397516237
rs397516237
MYH7
1 1.000 0.040 14 23432503 missense variant C/T snv 0.700 1.000 3 2011 2016
dbSNP: rs397516247
rs397516247
MYH7 ; MHRT
1 1.000 0.040 14 23415174 missense variant G/C;T snv 0.700 1.000 3 2012 2017
dbSNP: rs397516376
rs397516376
TPM1
1 1.000 0.040 15 63060924 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 3 2015 2017
dbSNP: rs397516459
rs397516459
TNNT2
1 1.000 0.040 1 201365281 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2004 2011
dbSNP: rs727503219
rs727503219
MYBPC3
1 1.000 0.040 11 47350009 splice region variant C/G;T snv 0.700 1.000 3 2010 2017
dbSNP: rs727504274
rs727504274
MYH7
1 1.000 0.040 14 23420225 missense variant C/G;T snv 4.1E-06 0.700 1.000 3 2008 2011