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: 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: rs397516364
rs397516364
TPM1
3 0.925 0.080 15 63042852 missense variant T/G snv 0.020 1.000 2 2002 2004
dbSNP: rs769345284
rs769345284
NEB
3 0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 0.700 1.000 2 2008 2014
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: rs755531536
rs755531536
NEB
3 0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs104894129
rs104894129
TPM2
4 0.851 0.120 9 35685672 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121964852
rs121964852
TPM3
4 0.851 0.080 1 154172971 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1373863123
rs1373863123
ACTB
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2013 2013
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: rs778022582
rs778022582
KLHL40
4 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.010 1.000 1 2019 2019
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: rs137853306
rs137853306
TPM2
6 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2018 2018