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: rs150974575
rs150974575
DES
3 1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 0.700 1.000 9 2000 2013
dbSNP: rs121908334
rs121908334
LDB3
3 0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06 0.700 1.000 8 2005 2017
dbSNP: rs193922879
rs193922879
RYR1
2 1.000 0.080 19 38580382 missense variant G/A snv 7.6E-05 1.1E-04 0.700 1.000 8 2008 2015
dbSNP: rs121909525
rs121909525
ACTA1
2 1.000 0.080 1 229431994 missense variant C/A;G snv 0.700 1.000 6 2003 2015
dbSNP: rs727503036
rs727503036
EMD
1 X 154380232 splice acceptor variant A/G snv 0.700 1.000 6 1975 1999
dbSNP: rs193922839
rs193922839
RYR1
3 0.925 0.120 19 38534775 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 5 2007 2013
dbSNP: rs727504448
rs727504448
DES
2 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs200563280
rs200563280
RYR1
4 0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.700 1.000 4 2010 2014
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: rs367543052
rs367543052
MYH7 ; MHRT
4 0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 0.700 1.000 4 2003 2012
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: rs57508089
rs57508089
LMNA
3 1.000 0.080 1 156136110 synonymous variant C/T snv 0.700 1.000 4 2007 2017
dbSNP: rs730880352
rs730880352
EMD
1 X 154381072 frameshift variant -/TGGGC delins 0.700 1.000 3 1995 2007
dbSNP: rs267607592
rs267607592
LMNA
2 1.000 0.080 1 156137233 splice donor variant G/A snv 0.700 1.000 2 2005 2009
dbSNP: rs727504901
rs727504901
EMD
1 X 154379688 splice acceptor variant A/G snv 0.700 1.000 2 1995 2007
dbSNP: rs267607495
rs267607495
DES
2 2 219418497 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs397517481
rs397517481
TTN ; TTN-AS1
2 1.000 0.040 2 178734327 splice donor variant C/A;T snv 4.3E-06 0.700 1.000 1 2013 2013
dbSNP: rs121912633
rs121912633
TRPV4
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121912637
rs121912637
TRPV4
5 0.851 0.160 12 109784378 missense variant G/A;C snv 0.700 0
dbSNP: rs267607143
rs267607143
TRPV4
5 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
dbSNP: rs267607145
rs267607145
TRPV4
4 0.882 0.080 12 109798820 missense variant G/A;T snv 0.700 0
dbSNP: rs267607146
rs267607146
TRPV4
5 0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs267607148
rs267607148
TRPV4
4 0.882 0.120 12 109800639 missense variant C/T snv 0.700 0
dbSNP: rs267607149
rs267607149
TRPV4
5 0.851 0.120 12 109784385 missense variant C/T snv 0.700 0