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: 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: 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: rs886044062
rs886044062
ACTA1
1 1.000 0.080 1 229432087 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs80358250
rs80358250
CFL2
2 0.925 0.080 14 34713462 missense variant C/T snv 0.700 0
dbSNP: rs1559168230
rs1559168230
NEB
1 1.000 0.080 2 151679718 splice donor variant TACGTCA/- del 0.700 1.000 1 2014 2014
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: rs780022652
rs780022652
NEB
2 0.925 0.080 2 151674476 splice donor variant C/A;T snv 1.6E-05; 8.0E-06 0.700 1.000 1 2014 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: 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: 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: 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: 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: 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: 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: 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