Source: BEFREE ×
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
4 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016
dbSNP: rs104894505
rs104894505
TPM1
3 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2017
dbSNP: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.040 1.000 4 2005 2013
dbSNP: rs1739843
rs1739843
HSPB7
3 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.030 1.000 3 2010 2016
dbSNP: rs60682848
rs60682848
LMNA
8 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.030 1.000 3 2007 2020
dbSNP: rs10927875
rs10927875
ZBTB17
2 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.020 1.000 2 2011 2013
dbSNP: rs199476317
rs199476317
TPM1
2 0.827 0.080 15 63062263 missense variant G/A snv 0.020 1.000 2 2010 2017
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.720 1.000 2 1999 2012
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.720 1.000 2 1999 2019
dbSNP: rs61672878
rs61672878
LMNA
9 0.776 0.200 1 156136094 missense variant G/A;T snv 0.020 1.000 2 2003 2003
dbSNP: rs74315380
rs74315380
TNNT2
2 0.851 0.080 1 201364366 missense variant G/A;C snv 0.020 1.000 2 2003 2016
dbSNP: rs878855296
rs878855296
SCN5A
1 0.925 0.080 3 38613790 missense variant C/T snv 7.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs1009977
rs1009977
LGALS3
1 1.000 0.040 14 55136284 intron variant T/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
2 0.925 0.040 6 118558946 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1175271580
rs1175271580
LMOD2
1 1.000 0.040 7 123662780 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1241664568
rs1241664568
PRDX5
1 1.000 0.040 11 64320661 missense variant A/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1346512134
rs1346512134
TPM1
1 1.000 0.040 15 63042909 missense variant C/T snv 0.010 1.000 1 2015 2015
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: rs1406139218
rs1406139218
NPR1
1 1.000 0.040 1 153687341 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
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
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs177415
rs177415
PSEN1
2 1.000 0.040 14 73211255 intron variant T/C;G snv 0.010 1.000 1 2011 2011