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: rs199474714
rs199474714
TPM3
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2010 2010
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: rs730881159
rs730881159
TPM1
1 1.000 0.080 15 63061774 missense variant G/A;T snv 0.010 1.000 1 2010 2010
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: rs886044062
rs886044062
ACTA1
1 1.000 0.080 1 229432087 missense variant C/T snv 0.010 1.000 1 2011 2011
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: 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: rs786204430
rs786204430
NEB
2 0.925 0.080 2 151684829 frameshift variant A/- del 7.0E-06 0.700 1.000 2 2006 2016
dbSNP: rs397516364
rs397516364
TPM1
3 0.925 0.080 15 63042852 missense variant T/G snv 0.020 1.000 2 2002 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: 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: 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: 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
dbSNP: rs760200697
rs760200697
NEB ; RIF1
1 1.000 0.080 2 151491697 stop gained A/C snv 4.5E-06 0.700 1.000 4 2002 2015