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: rs397515947
rs397515947
MYBPC3
2 1.000 0.040 11 47339376 frameshift variant G/- delins 0.700 1.000 9 1998 2017
dbSNP: rs727503185
rs727503185
MYBPC3
1 1.000 0.040 11 47337420 missense variant C/T snv 4.1E-06 1.4E-05 0.700 1.000 7 2008 2017
dbSNP: rs397516038
rs397516038
MYBPC3
1 1.000 0.040 11 47332151 frameshift variant G/- delins 0.700 1.000 5 2010 2017
dbSNP: rs1060501484
rs1060501484
MYBPC3
1 1.000 0.040 11 47332576 frameshift variant C/- delins 0.700 1.000 3 2013 2017
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: rs1555122053
rs1555122053
MYBPC3
1 1.000 0.040 11 47341990 splice donor variant C/T snv 0.700 1.000 2 2011 2015
dbSNP: rs193922377
rs193922377
MYBPC3
1 1.000 0.040 11 47343051 missense variant C/T snv 1.4E-04 1.6E-04 0.020 1.000 2 2017 2018
dbSNP: rs397515895
rs397515895
MYBPC3
1 1.000 0.040 11 47343099 stop gained G/A snv 0.700 1.000 2 2002 2008
dbSNP: rs397515943
rs397515943
MYBPC3
1 1.000 0.040 11 47339702 frameshift variant AGGG/CC delins 0.700 1.000 2 2009 2015
dbSNP: rs397515954
rs397515954
MYBPC3
1 1.000 0.040 11 47338646 stop gained C/A snv 0.700 1.000 2 2014 2017
dbSNP: rs397516061
rs397516061
MYBPC3
1 1.000 0.040 11 47349815 stop gained G/A snv 0.700 1.000 2 2015 2018
dbSNP: rs397516072
rs397516072
MYBPC3
1 1.000 0.040 11 47348423 splice donor variant C/T snv 0.700 1.000 2 2001 2009
dbSNP: rs727504248
rs727504248
MYBPC3
1 1.000 0.040 11 47342153 frameshift variant T/- delins 0.700 1.000 2 2010 2011
dbSNP: rs730880698
rs730880698
MYBPC3
1 1.000 0.040 11 47351294 stop gained G/A;C;T snv 5.3E-05 0.700 1.000 2 2007 2011
dbSNP: rs121909378
rs121909378
MYBPC3
1 1.000 0.040 11 47332931 missense variant C/A;T snv 4.1E-06; 2.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs1412710023
rs1412710023
MYBPC3
3 0.925 0.040 11 47343549 missense variant T/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1555120651
rs1555120651
MYBPC3
1 1.000 0.040 11 47333966 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs201012766
rs201012766
MYBPC3
1 1.000 0.040 11 47349898 missense variant C/G;T snv 8.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs201098973
rs201098973
MYBPC3
1 1.000 0.040 11 47349782 missense variant C/A;T snv 4.2E-06; 3.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs201596087
rs201596087
MYBPC3
1 1.000 0.040 11 47341992 missense variant G/A snv 3.0E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs367947846
rs367947846
MYBPC3
2 1.000 0.040 11 47346298 stop gained G/A;C snv 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs373792537
rs373792537
MYBPC3
1 1.000 0.040 11 47337467 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397515896
rs397515896
MYBPC3
1 1.000 0.040 11 47343062 frameshift variant A/- del 0.700 1.000 1 2003 2003
dbSNP: rs397515920
rs397515920
MYBPC3
1 1.000 0.040 11 47342088 stop gained T/A snv 0.700 1.000 1 2003 2003