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: rs730880597
rs730880597
MYBPC3
1 1.000 0.040 11 47332245 stop gained C/T snv 0.700 1.000 3 2012 2014
dbSNP: rs148395034
rs148395034
TRIM63
2 0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05 0.720 0.500 2 2012 2014
dbSNP: rs193922386
rs193922386
MYBPC3
3 0.882 0.080 11 47346365 stop gained G/A;C;T snv 4.9E-06 0.700 1.000 2 2008 2011
dbSNP: rs397515895
rs397515895
MYBPC3
1 1.000 0.040 11 47343099 stop gained G/A snv 0.700 1.000 2 2002 2008
dbSNP: rs397515954
rs397515954
MYBPC3
1 1.000 0.040 11 47338646 stop gained C/A snv 0.700 1.000 2 2014 2017
dbSNP: rs397515965
rs397515965
MYBPC3
2 0.925 0.080 11 47337539 stop gained C/A;T snv 0.700 1.000 2 2013 2014
dbSNP: rs397516061
rs397516061
MYBPC3
1 1.000 0.040 11 47349815 stop gained G/A snv 0.700 1.000 2 2015 2018
dbSNP: rs573916965
rs573916965
MYBPC3
5 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.720 1.000 2 2008 2010
dbSNP: rs730880698
rs730880698
MYBPC3
1 1.000 0.040 11 47351294 stop gained G/A;C;T snv 5.3E-05 0.700 1.000 2 2007 2011
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1555120651
rs1555120651
MYBPC3
1 1.000 0.040 11 47333966 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs281860563
rs281860563
HLA-B ; HLA-C
1 1.000 0.040 6 31270363 stop gained G/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs367947846
rs367947846
MYBPC3
2 1.000 0.040 11 47346298 stop gained G/A;C snv 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs373792537
rs373792537
MYBPC3
1 1.000 0.040 11 47337467 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397515910
rs397515910
MYBPC3
2 0.925 0.080 11 47342627 stop gained A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs397515920
rs397515920
MYBPC3
1 1.000 0.040 11 47342088 stop gained T/A snv 0.700 1.000 1 2003 2003
dbSNP: rs397515942
rs397515942
MYBPC3
2 0.925 0.080 11 47339670 stop gained C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs397515974
rs397515974
MYBPC3
3 0.882 0.080 11 47337452 stop gained G/A;C;T snv 0.700 1.000 1 2004 2004
dbSNP: rs397516013
rs397516013
MYBPC3
1 1.000 0.040 11 47333231 stop gained C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs727504289
rs727504289
MYBPC3
3 0.925 0.080 11 47332932 stop gained G/A;T snv 8.3E-06; 4.1E-06 0.700 1.000 1 2004 2004
dbSNP: rs730880546
rs730880546
MYBPC3
1 1.000 0.040 11 47342050 stop gained C/T snv 4.1E-06 0.700 1.000 1 2011 2011
dbSNP: rs778924100
rs778924100
TXNRD1
2 0.925 0.040 12 104318981 stop gained C/G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519051
rs1057519051
SLC22A5
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
dbSNP: rs1565625795
rs1565625795
MYBPC3
1 1.000 0.040 11 47338547 stop gained G/A snv 0.700 0