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: rs104894129
rs104894129
TPM2
4 0.851 0.120 9 35685672 missense variant C/T snv 0.010 1.000 1 2013 2013
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: rs121909520
rs121909520
ACTA1
2 0.925 0.080 1 229432660 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs121964852
rs121964852
TPM3
4 0.851 0.080 1 154172971 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1257495033
rs1257495033
NEB ; RIF1
2 0.925 0.080 2 151496977 frameshift variant -/ATCT delins 4.9E-06; 4.9E-06 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs1273559032
rs1273559032
ACTA1
1 1.000 0.080 1 229432619 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1344099907
rs1344099907
NEB ; RIF1
2 0.925 0.080 2 151497028 splice acceptor variant -/AACA;ACA delins 0.700 1.000 2 2014 2015
dbSNP: rs1373863123
rs1373863123
ACTB
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs137853306
rs137853306
TPM2
6 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1458048713
rs1458048713
NEB ; RIF1
2 0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05 0.700 1.000 4 2004 2016
dbSNP: rs1559168230
rs1559168230
NEB
1 1.000 0.080 2 151679718 splice donor variant TACGTCA/- del 0.700 1.000 1 2014 2014
dbSNP: rs1559573882
rs1559573882
NEB
1 1.000 0.080 2 151717504 frameshift variant C/- delins 0.700 0
dbSNP: rs191579691
rs191579691
NEB
2 0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06 0.700 1.000 4 2006 2016
dbSNP: rs199474714
rs199474714
TPM3
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs201553266
rs201553266
NEB
4 0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 1 2016 2016
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: rs387907090
rs387907090
RASL12 ; KBTBD13
2 0.925 0.080 15 65078037 missense variant C/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs397515470
rs397515470
ACTB
2 0.925 0.280 7 5529175 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs397516364
rs397516364
TPM1
3 0.925 0.080 15 63042852 missense variant T/G snv 0.020 1.000 2 2002 2004
dbSNP: rs555445835
rs555445835
NEB ; RIF1
2 0.925 0.080 2 151494212 frameshift variant AG/- del 8.3E-06 1.4E-05 0.700 1.000 1 2015 2015
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: rs730882235
rs730882235
KLHL41
2 0.925 0.080 2 169510415 frameshift variant A/- delins 0.700 0
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: rs750900690
rs750900690
NEB ; RIF1
1 1.000 0.080 2 151527528 stop gained G/A snv 8.1E-06 0.700 1.000 4 2002 2015