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: rs58672172
rs58672172
LMNA
3 0.882 0.160 1 156136251 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs59332535
rs59332535
LMNA
5 0.827 0.160 1 156134911 missense variant G/A snv 0.700 0
dbSNP: rs59684335
rs59684335
LMNA
3 0.882 0.120 1 156135280 frameshift variant CT/- delins 0.700 0
dbSNP: rs60890628
rs60890628
LMNA
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.800 0
dbSNP: rs730882262
rs730882262
LMNA
4 0.851 0.160 1 156135293 missense variant T/C;G snv 0.700 0
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 1999 1999
dbSNP: rs1284689627
rs1284689627
TTN ; TTN-AS1
1 1.000 0.040 2 178550125 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1298494952
rs1298494952
TTN
2 1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1368507241
rs1368507241
DES
2 1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs139517732
rs139517732
TTN
4 0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs150793926
rs150793926
CACNB4
1 1.000 0.040 2 151924550 intron variant TA/-;TATA;TATATA delins 0.700 1.000 1 2018 2018
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs267607155
rs267607155
TTN
3 0.925 0.040 2 178782980 missense variant A/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2014 2014
dbSNP: rs397516695
rs397516695
DES
4 0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs61726467
rs61726467
DES
3 0.882 0.160 2 219421553 stop gained G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs767743962
rs767743962
DES
1 1.000 0.040 2 219420290 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs777846521
rs777846521
FHL2
1 1.000 0.040 2 105386375 missense variant C/G;T snv 8.0E-06; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs879217756
rs879217756
TTN
1 1.000 0.040 2 178784108 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs104893823
rs104893823
TNNC1
5 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016
dbSNP: rs878855296
rs878855296
SCN5A
2 0.925 0.080 3 38613790 missense variant C/T snv 7.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1471808574
rs1471808574
TNNC1
1 1.000 0.040 3 52452128 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015