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: rs104893823
rs104893823
TNNC1
5 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2011
dbSNP: rs104894505
rs104894505
TPM1
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2009
dbSNP: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2009
dbSNP: rs199473161
rs199473161
SCN5A
2 1.000 0.080 3 38586038 missense variant G/A;T snv 0.700 1.000 4 2005 2014
dbSNP: rs267607003
rs267607003
RBM20
3 0.925 0.040 10 110812310 missense variant C/A;G;T snv 0.700 1.000 4 2009 2012
dbSNP: rs267607578
rs267607578
LMNA
3 0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 0.700 1.000 4 2007 2012
dbSNP: rs267607581
rs267607581
LMNA
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 1.000 4 1996 2017
dbSNP: rs28933092
rs28933092
LMNA
2 1.000 0.040 1 156134497 missense variant A/G;T snv 0.700 1.000 4 1999 2008
dbSNP: rs28933093
rs28933093
LMNA
5 0.882 0.160 1 156130741 missense variant G/A snv 0.700 1.000 4 2003 2009
dbSNP: rs397516089
rs397516089
MYH7
6 0.827 0.080 14 23429807 missense variant C/G;T snv 0.700 1.000 4 2009 2017
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
6 0.851 0.200 14 23415153 missense variant C/T snv 0.700 1.000 4 2009 2015
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
3 0.925 0.160 14 23413809 missense variant C/T snv 0.700 1.000 4 2012 2017
dbSNP: rs397516464
rs397516464
TNNT2
1 1 201364365 missense variant C/G;T snv 0.700 1.000 4 2004 2014
dbSNP: rs397516471
rs397516471
TNNT2
4 0.882 0.080 1 201363348 missense variant C/T snv 0.700 1.000 4 2010 2017
dbSNP: rs397516881
rs397516881
BAG3
7 0.827 0.120 10 119676917 missense variant G/A snv 0.710 1.000 4 2011 2017
dbSNP: rs56984562
rs56984562
LMNA
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.700 1.000 4 2003 2010
dbSNP: rs57508089
rs57508089
LMNA
3 1.000 0.080 1 156136110 synonymous variant C/T snv 0.700 1.000 4 2007 2017
dbSNP: rs62636495
rs62636495
DES
4 0.925 0.200 2 219418500 missense variant C/A;T snv 0.700 1.000 4 2007 2009
dbSNP: rs72646846
rs72646846
TTN ; TTN-AS1
4 0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 0.700 1.000 4 2012 2019
dbSNP: rs869248137
rs869248137
BAG3
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.030 1.000 3 2006 2013
dbSNP: rs267607004
rs267607004
RBM20
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 0.700 1.000 3 2009 2013
dbSNP: rs387906875
rs387906875
BAG3
3 0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs397516355
rs397516355
TNNI3
1 19 55154035 stop gained C/A;T snv 0.700 1.000 3 2012 2017