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: rs137852764
rs137852764
CSRP3
1 1.000 0.040 11 19188211 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs137854618
rs137854618
SCN5A
7 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1384750266
rs1384750266
TNNI3
1 1.000 0.040 19 55154199 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs138592977
rs138592977
LMNA
3 1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs1393297693
rs1393297693
SRF
3 1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs139517732
rs139517732
TTN
3 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: 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: rs141490569
rs141490569
LMNA
1 1.000 0.040 1 156136258 missense variant G/A snv 8.0E-05 9.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs141638421
rs141638421
CRYAB
3 0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs142000963
rs142000963
LMNA
6 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs143187236
rs143187236
MYOM3
1 1.000 0.040 1 24106050 stop gained C/A snv 5.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs143268013
rs143268013
CAVIN4
1 1.000 0.040 9 100578527 missense variant C/G snv 1.2E-04 3.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs144683137
rs144683137
VCL
2 0.925 0.120 10 74074745 missense variant A/G;T snv 1.2E-05; 3.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs145579007
rs145579007
ACE
2 0.925 0.080 17 63496503 missense variant G/A snv 1.0E-04 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs1462311598
rs1462311598
DMD
1 1.000 0.040 X 32390180 missense variant T/C snv 5.5E-06 0.010 1.000 1 2004 2004
dbSNP: rs146275785
rs146275785
NEBL
3 0.925 0.040 10 20828531 missense variant G/A;T snv 7.2E-05; 2.7E-04 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: rs149105212
rs149105212
MYOM3
1 1.000 0.040 1 24106049 missense variant T/A snv 5.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs149399492
rs149399492
EDN1
1 1.000 0.040 6 12292395 missense variant C/A;G;T snv 5.6E-05; 2.0E-05; 3.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs149585781
rs149585781
PNMT ; TCAP
1 0.925 0.040 17 39666063 missense variant G/A snv 2.1E-04 2.1E-04 0.010 1.000 1 2004 2004
dbSNP: rs150035515
rs150035515
EDN1
1 1.000 0.040 6 12292366 synonymous variant G/A;T snv 7.0E-04; 5.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs150821281
rs150821281
PKP2
7 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs151080979
rs151080979
LRRC10
1 1.000 0.040 12 69610255 missense variant A/G snv 4.9E-03 4.0E-03 0.010 1.000 1 2018 2018
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