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: rs121909374
rs121909374
MYBPC3
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 16 1997 2017
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: rs371401403
rs371401403
MYBPC3
6 0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs397516074
rs397516074
MYBPC3
5 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.720 1.000 33 1998 2017
dbSNP: rs375882485
rs375882485
MYBPC3
5 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.720 1.000 8 2003 2018
dbSNP: rs397516005
rs397516005
MYBPC3
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.760 1.000 6 2002 2019
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 3 2008 2013
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: 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 22 1998 2017
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 18 1998 2017
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: 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 10 2003 2015
dbSNP: rs2856655
rs2856655
MYBPC3
4 0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05 0.700 1.000 9 2003 2016
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: rs36211723
rs36211723
MYBPC3
5 0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05 0.700 1.000 7 2004 2017
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: rs397516037
rs397516037
MYBPC3
4 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 1.000 5 2001 2008
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: 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: rs775404728
rs775404728
MYBPC3
4 0.851 0.080 11 47337535 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2017
dbSNP: rs727503166
rs727503166
MYBPC3
5 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 1 2009 2009
dbSNP: rs1060499604
rs1060499604
MYBPC3
4 0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
5 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
dbSNP: rs397516000
rs397516000
MYBPC3
3 0.882 0.080 11 47333682 missense variant C/G;T snv 2.4E-05; 4.1E-06 0.700 1.000 11 2005 2017