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: rs193922384
rs193922384
MYBPC3
3 0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05 0.700 1.000 8 1995 2014
dbSNP: rs397516155
rs397516155
MYH7
3 0.882 0.080 14 23424907 inframe deletion TCT/- delins 0.700 1.000 9 2004 2018
dbSNP: rs397516470
rs397516470
TNNT2
4 0.851 0.080 1 201363377 inframe deletion CTC/- delins 0.700 1.000 8 1995 2012
dbSNP: rs367543052
rs367543052
MYH7 ; MHRT
4 0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 0.700 1.000 5 2003 2014
dbSNP: rs397516172
rs397516172
MYH7
2 0.925 0.080 14 23424036 inframe deletion CTC/- delins 0.700 1.000 4 1998 2017
dbSNP: rs193922387
rs193922387
MYH7
1 1.000 0.040 14 23424794 inframe deletion TCT/- delins 0.700 1.000 3 2003 2017
dbSNP: rs397516040
rs397516040
MYBPC3
2 0.925 0.080 11 47332117 inframe deletion TGG/- delins 0.700 1.000 3 2014 2017
dbSNP: rs397516351
rs397516351
TNNI3
2 0.925 0.080 19 55154045 inframe deletion TTC/- delins 0.700 1.000 2 2003 2008
dbSNP: rs121913648
rs121913648
MYH7 ; MHRT
2 0.925 0.160 14 23416105 inframe deletion TTC/- delins 0.700 0
dbSNP: rs397515972
rs397515972
MYBPC3
1 1.000 0.040 11 47337457 inframe deletion CGCATCTCG/- delins 0.700 0
dbSNP: rs727504277
rs727504277
TNNT2
1 1.000 0.040 1 201365284 inframe deletion TCC/- delins 0.700 0
dbSNP: rs727504288
rs727504288
MYBPC3
2 0.925 0.080 11 47337550 inframe deletion CTT/- delins 2.8E-05 0.700 0
dbSNP: rs730880674
rs730880674
MYBPC3
3 0.882 0.080 11 47332895 inframe deletion TAG/- delins 7.0E-06 0.700 0
dbSNP: rs397516341
rs397516341
TNNI3 ; LOC101930593
1 1.000 0.040 19 55157589 start lost T/C snv 0.700 0
dbSNP: rs373746463
rs373746463
MYBPC3
4 0.851 0.080 11 47333189 splice region variant C/A;G;T snv 1.8E-05; 4.4E-06 0.700 1.000 4 1995 2014
dbSNP: rs397516077
rs397516077
MYBPC3
3 0.925 0.080 11 47347852 splice region variant C/T snv 0.700 1.000 4 1997 2003
dbSNP: rs397515916
rs397515916
MYBPC3
2 0.925 0.080 11 47342574 splice region variant T/A snv 1.3E-05 2.8E-05 0.700 1.000 3 2005 2014
dbSNP: rs587782958
rs587782958
MYBPC3
10 0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 0.700 1.000 3 1986 2010
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: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1555123438
rs1555123438
MYBPC3
1 1.000 0.040 11 47349921 splice region variant -/CTGC delins 0.700 0
dbSNP: rs753392652
rs753392652
MYH7 ; MHRT
1 1.000 0.040 14 23414007 splice region variant C/T snv 1.2E-05 1.4E-05 0.700 0
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: 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: rs397516082
rs397516082
MYBPC3
3 0.882 0.080 11 47346372 splice acceptor variant T/C snv 5.1E-06 0.700 1.000 4 1998 2010