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: rs121909298
rs121909298
SGCD
4 0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2006 2006
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: 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: rs1294156190
rs1294156190
TXNRD2
1 1.000 0.040 22 19880680 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
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: 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: 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: 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
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: 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: 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: 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
2 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: rs150793926
rs150793926
CACNB4
1 1.000 0.040 2 151924550 intron variant TA/-;TATA;TATATA delins 0.700 1.000 1 2018 2018