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: rs397516083
rs397516083
MYBPC3
4 0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05 0.700 1.000 6 2010 2016
dbSNP: rs36212066
rs36212066
MYBPC3
3 0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04 0.700 1.000 4 2003 2014
dbSNP: rs397515893
rs397515893
MYBPC3
2 0.925 0.080 11 47343158 intron variant C/T snv 1.3E-05; 4.2E-06 7.0E-06 0.700 1.000 3 2002 2017
dbSNP: rs201078659
rs201078659
MYBPC3
2 0.925 0.080 11 47346380 intron variant G/A;C;T snv 3.3E-05 0.700 1.000 2 2015 2017
dbSNP: rs587776699
rs587776699
MYBPC3
2 0.925 0.080 11 47343281 intron variant C/T snv 2.6E-05 7.0E-06 0.700 1.000 2 2008 2008
dbSNP: rs1025692267
rs1025692267
MYBPC3
1 1.000 0.080 11 47343342 intron variant C/T snv 5.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs4863687
rs4863687
MAML3
2 0.925 0.120 4 139757127 intron variant C/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs6577641
rs6577641
SATB1 ; TBC1D5
1 1.000 0.080 3 18356357 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs864622197
rs864622197
MYBPC3
2 0.925 0.080 11 47347065 intron variant C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs121909374
rs121909374
MYBPC3
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 11 1997 2017
dbSNP: rs387907267
rs387907267
MYBPC3
4 0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05 0.700 1.000 8 2009 2015
dbSNP: rs397515974
rs397515974
MYBPC3
3 0.882 0.080 11 47337452 stop gained G/A;C;T snv 0.700 1.000 5 2004 2017
dbSNP: rs397515982
rs397515982
MYBPC3
2 0.925 0.080 11 47335944 stop gained C/T snv 0.700 1.000 5 2004 2012
dbSNP: rs397516037
rs397516037
MYBPC3
4 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 1.000 5 2001 2011
dbSNP: rs193922383
rs193922383
MYBPC3
2 0.925 0.080 11 47332896 stop gained G/A;T snv 4.2E-06 0.700 1.000 4 2014 2017
dbSNP: rs397516005
rs397516005
MYBPC3
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.700 1.000 4 2002 2017
dbSNP: rs397516042
rs397516042
MYBPC3
5 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 1.000 4 2008 2013
dbSNP: rs397515942
rs397515942
MYBPC3
2 0.925 0.080 11 47339670 stop gained C/T snv 0.700 1.000 3 2003 2017
dbSNP: rs121909377
rs121909377
MYBPC3
3 0.882 0.080 11 47333238 stop gained C/A;T snv 4.8E-06; 1.9E-05 0.700 1.000 2 1999 2017
dbSNP: rs368765949
rs368765949
MYBPC3
3 0.882 0.080 11 47332244 stop gained C/A;T snv 7.0E-06 0.700 1.000 2 2012 2013
dbSNP: rs730880576
rs730880576
MYBPC3
1 1.000 0.080 11 47335199 stop gained C/T snv 0.700 1.000 2 2015 2017
dbSNP: rs1565622952
rs1565622952
MYBPC3
1 1.000 0.080 11 47332947 stop gained G/T snv 0.700 1.000 1 2017 2017
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: rs397515965
rs397515965
MYBPC3
2 0.925 0.080 11 47337539 stop gained C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs397516006
rs397516006
MYBPC3
2 0.925 0.080 11 47333291 stop gained C/T snv 0.700 1.000 1 2014 2014