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: 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: rs397516103
rs397516103
MYH7
1 1.000 0.040 14 23428992 missense variant A/C;G snv 4.0E-06 1.4E-05 0.700 1.000 6 2011 2017
dbSNP: rs397516038
rs397516038
MYBPC3
1 1.000 0.040 11 47332151 frameshift variant G/- delins 0.700 1.000 5 2010 2017
dbSNP: rs397516132
rs397516132
MYH7
1 1.000 0.040 14 23426021 missense variant A/T snv 0.700 1.000 5 2011 2017
dbSNP: rs730880875
rs730880875
MYH7
1 1.000 0.040 14 23428601 missense variant T/A;C snv 0.700 1.000 5 2007 2017
dbSNP: rs730880922
rs730880922
MYH7
1 1.000 0.040 14 23431474 missense variant A/C snv 0.700 1.000 5 2009 2017
dbSNP: rs397516128
rs397516128
MYH7
1 1.000 0.040 14 23426057 missense variant A/G snv 0.700 1.000 4 2011 2017
dbSNP: rs1060501484
rs1060501484
MYBPC3
1 1.000 0.040 11 47332576 frameshift variant C/- delins 0.700 1.000 3 2013 2017
dbSNP: rs193922387
rs193922387
MYH7
1 1.000 0.040 14 23424794 inframe deletion TCT/- delins 0.700 1.000 3 2003 2017
dbSNP: rs200889953
rs200889953
ALPK3
1 1.000 0.040 15 84839087 stop gained C/T snv 0.700 1.000 3 2012 2016
dbSNP: rs397516134
rs397516134
MYH7
1 1.000 0.040 14 23426003 missense variant C/A;G snv 0.700 1.000 3 2014 2017
dbSNP: rs397516237
rs397516237
MYH7
1 1.000 0.040 14 23432503 missense variant C/T snv 0.700 1.000 3 2011 2016
dbSNP: rs397516247
rs397516247
MYH7 ; MHRT
1 1.000 0.040 14 23415174 missense variant G/C;T snv 0.700 1.000 3 2012 2017
dbSNP: rs397516376
rs397516376
TPM1
1 1.000 0.040 15 63060924 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 3 2015 2017
dbSNP: rs397516459
rs397516459
TNNT2
1 1.000 0.040 1 201365281 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2004 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: rs727504274
rs727504274
MYH7
1 1.000 0.040 14 23420225 missense variant C/G;T snv 4.1E-06 0.700 1.000 3 2008 2011
dbSNP: rs727504325
rs727504325
MYH7 ; MIR208B
1 1.000 0.040 14 23418234 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2013 2017
dbSNP: rs727504356
rs727504356
MYH7
1 1.000 0.040 14 23424846 missense variant C/A;G snv 4.0E-06 0.700 1.000 3 1991 2017
dbSNP: rs730880404
rs730880404
ACTC1 ; LOC101928174
1 1.000 0.040 15 34791136 missense variant G/A snv 0.700 1.000 3 2012 2014
dbSNP: rs730880597
rs730880597
MYBPC3
1 1.000 0.040 11 47332245 stop gained C/T snv 0.700 1.000 3 2012 2014
dbSNP: rs745688425
rs745688425
ALPK3
1 1.000 0.040 15 84858461 frameshift variant C/- delins 1.1E-05 7.0E-06 0.700 1.000 3 2012 2016
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: rs199474706
rs199474706
MYL3
1 1.000 0.040 3 46859493 missense variant G/C snv 0.700 1.000 2 2009 2017