Gene: MYBPC3 ×
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: rs397515937
rs397515937
MYBPC3
4 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 12 1995 2014
dbSNP: rs397515963
rs397515963
MYBPC3
4 0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05 0.700 1.000 11 1998 2015
dbSNP: rs397515947
rs397515947
MYBPC3
2 1.000 0.040 11 47339376 frameshift variant G/- delins 0.700 1.000 9 1998 2017
dbSNP: rs397515990
rs397515990
MYBPC3
4 0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06 0.700 1.000 9 1998 2014
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: rs397515991
rs397515991
MYBPC3
2 0.925 0.080 11 47335041 splice donor variant C/G;T snv 0.700 1.000 8 1997 2017
dbSNP: rs397516020
rs397516020
MYBPC3
2 0.925 0.080 11 47332813 splice donor variant C/A;G;T snv 0.700 1.000 8 1997 2017
dbSNP: rs397516070
rs397516070
MYBPC3
3 0.882 0.080 11 47348486 missense variant T/G snv 0.700 1.000 7 2003 2017
dbSNP: rs112738974
rs112738974
MYBPC3
3 0.882 0.080 11 47338519 splice donor variant C/A;G;T snv 0.700 1.000 6 1997 2017
dbSNP: rs397515907
rs397515907
MYBPC3
3 0.882 0.080 11 47342697 missense variant C/A;T snv 0.700 1.000 6 1998 2012
dbSNP: rs397516080
rs397516080
MYBPC3
3 0.882 0.080 11 47346639 frameshift variant AA/- delins 0.700 1.000 6 2008 2016
dbSNP: rs387906397
rs387906397
MYBPC3
4 0.851 0.080 11 47333192 splice donor variant A/C;G snv 0.700 1.000 5 2007 2014
dbSNP: rs397516038
rs397516038
MYBPC3
1 1.000 0.040 11 47332151 frameshift variant G/- delins 0.700 1.000 5 2010 2017
dbSNP: rs397516083
rs397516083
MYBPC3
4 0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05 0.700 1.000 5 2010 2016
dbSNP: rs397516007
rs397516007
MYBPC3
2 0.925 0.080 11 47333331 frameshift variant -/G delins 0.700 1.000 4 2006 2013
dbSNP: rs397516031
rs397516031
MYBPC3
2 0.925 0.080 11 47332565 splice donor variant C/G;T snv 0.700 1.000 4 1998 2015
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: rs1060501484
rs1060501484
MYBPC3
1 1.000 0.040 11 47332576 frameshift variant C/- delins 0.700 1.000 3 2013 2017
dbSNP: rs397515982
rs397515982
MYBPC3
2 0.925 0.080 11 47335944 stop gained C/T snv 0.700 1.000 3 2004 2014
dbSNP: rs397515992
rs397515992
MYBPC3
3 0.882 0.080 11 47335042 stop gained G/A snv 0.700 1.000 3 1998 2010
dbSNP: rs397516040
rs397516040
MYBPC3
2 0.925 0.080 11 47332117 inframe deletion TGG/- delins 0.700 1.000 3 2014 2017
dbSNP: rs727503204
rs727503204
MYBPC3
5 0.882 0.080 11 47343020 splice donor variant C/G;T snv 0.700 1.000 3 2006 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: rs730880597
rs730880597
MYBPC3
1 1.000 0.040 11 47332245 stop gained C/T snv 0.700 1.000 3 2012 2014
dbSNP: rs111437311
rs111437311
MYBPC3
2 0.925 0.080 11 47342576 splice donor variant A/G;T snv 0.700 1.000 2 2003 2017