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: rs1559573882
rs1559573882
NEB
1 1.000 0.080 2 151717504 frameshift variant C/- delins 0.700 0
dbSNP: rs730882235
rs730882235
KLHL41
2 0.925 0.080 2 169510415 frameshift variant A/- delins 0.700 0
dbSNP: rs755531536
rs755531536
NEB
3 0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs763364977
rs763364977
NEB ; RIF1
2 0.925 0.080 2 151496308 stop gained G/A;T snv 8.1E-06 2.1E-05 0.700 0
dbSNP: rs777819332
rs777819332
NEB
1 1.000 0.080 2 151545911 stop gained C/A snv 4.1E-06 0.700 0
dbSNP: rs781667543
rs781667543
NEB ; RIF1
2 0.925 0.080 2 151497713 splice acceptor variant -/AACA;ACA delins 8.8E-05; 1.0E-05 2.1E-05 0.700 0
dbSNP: rs80358249
rs80358249
TNNT1
2 0.925 0.080 19 55137176 stop gained C/A snv 4.0E-06 1.6E-04 0.700 0
dbSNP: rs80358250
rs80358250
CFL2
2 0.925 0.080 14 34713462 missense variant C/T snv 0.700 0
dbSNP: rs928945364
rs928945364
NEB
2 0.925 0.080 2 151617381 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs934111355
rs934111355
NEB ; RIF1
2 0.925 0.080 2 151496992 frameshift variant GTAG/- delins 5.0E-06 1.4E-05 0.700 0
dbSNP: rs80358247
rs80358247
TPM3
3 0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06 0.710 1.000 1 2002 2002
dbSNP: rs397516364
rs397516364
TPM1
3 0.925 0.080 15 63042852 missense variant T/G snv 0.020 1.000 2 2002 2004
dbSNP: rs1273559032
rs1273559032
ACTA1
1 1.000 0.080 1 229432619 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs748922882
rs748922882
NEB ; RIF1
2 0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs121964852
rs121964852
TPM3
4 0.851 0.080 1 154172971 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs267606626
rs267606626
ACTA1
1 1.000 0.080 1 229432788 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs267606627
rs267606627
ACTA1
1 1.000 0.080 1 229432787 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs778593702
rs778593702
NEB
2 0.925 0.080 2 151729614 splice donor variant C/T snv 8.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs199474714
rs199474714
TPM3
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs730881159
rs730881159
TPM1
1 1.000 0.080 15 63061774 missense variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs118192170
rs118192170
RYR1
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs886044062
rs886044062
ACTA1
1 1.000 0.080 1 229432087 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894129
rs104894129
TPM2
4 0.851 0.120 9 35685672 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1373863123
rs1373863123
ACTB
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs397515470
rs397515470
ACTB
2 0.925 0.280 7 5529175 missense variant C/T snv 0.010 1.000 1 2013 2013