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: rs267607002
rs267607002
RBM20
2 1.000 0.040 10 110812303 missense variant C/A;T snv 0.700 1.000 5 2009 2016
dbSNP: rs267607155
rs267607155
TTN
3 0.925 0.040 2 178782980 missense variant A/G;T snv 0.700 1.000 5 1999 2017
dbSNP: rs397516165
rs397516165
MYH7
4 0.925 0.080 14 23424118 missense variant C/G;T snv 0.700 1.000 5 2011 2017
dbSNP: rs397516943
rs397516943
DSP
4 0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 0.700 1.000 5 2013 2017
dbSNP: rs61195471
rs61195471
LMNA
6 0.827 0.160 1 156134496 missense variant G/A snv 0.700 1.000 5 2001 2013
dbSNP: rs727503253
rs727503253
MYH7
2 1.000 0.040 14 23424119 missense variant G/A snv 4.0E-06 0.700 1.000 5 2011 2017
dbSNP: rs727503512
rs727503512
TNNT2
5 0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 5 2012 2013
dbSNP: rs727504448
rs727504448
DES
2 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
1 2 178702186 frameshift variant CTGCCGTGCT/- delins 0.700 1.000 5 2002 2012
dbSNP: rs727504801
rs727504801
SCN5A
3 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 1.000 5 1998 2012
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: 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