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: rs397516074
rs397516074
MYBPC3
5 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.700 1.000 19 1998 2014
dbSNP: rs397515905
rs397515905
MYBPC3
5 0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 15 1998 2017
dbSNP: rs200411226
rs200411226
MYBPC3
4 0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05 0.700 1.000 13 1998 2013
dbSNP: rs397516068
rs397516068
MYBPC3
3 0.882 0.080 11 47348541 missense variant C/A;G snv 4.1E-06 0.700 1.000 12 2004 2017
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: rs397515937
rs397515937
MYBPC3
4 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 11 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: rs727503166
rs727503166
MYBPC3
5 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 9 2008 2017
dbSNP: rs2856655
rs2856655
MYBPC3
4 0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05 0.700 1.000 8 2003 2014
dbSNP: rs36211723
rs36211723
MYBPC3
5 0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05 0.700 1.000 8 2004 2015
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: rs397515912
rs397515912
MYBPC3
3 0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05 0.700 1.000 8 2008 2017
dbSNP: rs187830361
rs187830361
MYBPC3
3 0.882 0.080 11 47337729 missense variant A/C;G;T snv 1.7E-05 0.700 1.000 7 2004 2017
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 7 2004 2017
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 7 2005 2017
dbSNP: rs397515990
rs397515990
MYBPC3
4 0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06 0.700 1.000 7 1998 2011
dbSNP: rs397516029
rs397516029
MYBPC3
4 0.882 0.080 11 47332569 frameshift variant G/-;GG delins 4.0E-06 0.700 1.000 7 2009 2017
dbSNP: rs397516082
rs397516082
MYBPC3
3 0.882 0.080 11 47346372 splice acceptor variant T/C snv 5.1E-06 0.700 1.000 7 1998 2019
dbSNP: rs111729952
rs111729952
MYBPC3
2 0.925 0.080 11 47337796 splice acceptor variant T/A;C;G snv 0.700 1.000 6 2004 2016
dbSNP: rs193922384
rs193922384
MYBPC3
3 0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05 0.700 1.000 6 1995 2014
dbSNP: rs375882485
rs375882485
MYBPC3
5 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.700 1.000 6 1998 2013
dbSNP: rs397515889
rs397515889
MYBPC3
3 0.925 0.080 11 47343547 frameshift variant G/-;GG delins 0.700 1.000 6 2001 2017
dbSNP: rs397516073
rs397516073
MYBPC3
2 0.925 0.080 11 47347856 splice donor variant C/G;T snv 2.9E-05 0.700 1.000 6 1998 2016
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: rs727503195
rs727503195
MYBPC3
2 0.925 0.080 11 47341991 missense variant C/T snv 3.0E-05 4.9E-05 0.700 1.000 6 2013 2017