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: rs1553255521
rs1553255521
ACTA1
1 1.000 0.080 1 229433007 missense variant C/A snv 0.800 1.000 16 1999 2015
dbSNP: rs121909523
rs121909523
ACTA1
1 1.000 0.080 1 229432020 missense variant T/A snv 0.800 1.000 15 1999 2015
dbSNP: rs121909519
rs121909519
ACTA1
1 1.000 0.080 1 229432723 missense variant A/G snv 1.4E-05 0.800 1.000 14 1999 2015
dbSNP: rs121909520
rs121909520
ACTA1
2 0.925 0.080 1 229432660 missense variant T/C snv 0.800 1.000 14 1999 2015
dbSNP: rs121909522
rs121909522
ACTA1
2 0.925 0.080 1 229432393 missense variant C/A;G;T snv 0.800 1.000 14 1999 2015
dbSNP: rs121909524
rs121909524
ACTA1
1 1.000 0.080 1 229431558 missense variant T/G snv 0.800 1.000 14 1999 2015
dbSNP: rs121909525
rs121909525
ACTA1
2 1.000 0.080 1 229431994 missense variant C/A;G snv 0.800 1.000 14 1999 2015
dbSNP: rs121909526
rs121909526
ACTA1
1 1.000 0.080 1 229432596 missense variant G/C snv 0.800 1.000 14 1999 2015
dbSNP: rs1553255360
rs1553255360
ACTA1
1 1.000 0.080 1 229431899 missense variant A/C snv 0.800 1.000 14 1999 2015
dbSNP: rs1553255502
rs1553255502
ACTA1
1 1.000 0.080 1 229432813 missense variant A/T snv 0.800 1.000 14 1999 2015
dbSNP: rs398122936
rs398122936
ACTA1
1 1.000 0.080 1 229431727 missense variant C/G snv 0.800 1.000 14 1999 2015
dbSNP: rs398123562
rs398123562
ACTA1
1 1.000 0.080 1 229432877 missense variant C/A;T snv 4.0E-06 0.800 1.000 14 1999 2015
dbSNP: rs587777354
rs587777354
ACTA1
1 1.000 0.080 1 229431559 missense variant C/A snv 0.800 1.000 14 1999 2015
dbSNP: rs1064794287
rs1064794287
ACTA1
1 1.000 0.080 1 229432333 missense variant G/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs1057521118
rs1057521118
ACTA1
1 1.000 0.080 1 229432126 missense variant C/G snv 0.700 1.000 14 1999 2015
dbSNP: rs1553255482
rs1553255482
ACTA1
1 1.000 0.080 1 229432585 missense variant A/G snv 0.700 1.000 14 1999 2015
dbSNP: rs121909527
rs121909527
ACTA1
2 0.925 0.080 1 229433109 missense variant C/A snv 0.700 1.000 13 1999 2015
dbSNP: rs121909528
rs121909528
ACTA1
2 0.925 0.080 1 229431626 missense variant T/C;G snv 0.700 1.000 13 1999 2015
dbSNP: rs367543051
rs367543051
ACTA1
2 0.925 0.080 1 229432075 missense variant C/T snv 0.700 1.000 13 1999 2015
dbSNP: rs1553255479
rs1553255479
ACTA1
1 1.000 0.080 1 229432561 missense variant G/C snv 0.700 1.000 4 2003 2015
dbSNP: rs1558081664
rs1558081664
ACTA1
1 1.000 0.080 1 229432120 missense variant C/G snv 0.700 1.000 4 2009 2014
dbSNP: rs367543048
rs367543048
ACTA1
2 0.925 0.080 1 229433100 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 1988 2016
dbSNP: rs794727488
rs794727488
ACTA1
1 1.000 0.080 1 229432868 missense variant C/T snv 0.700 1.000 4 2009 2016
dbSNP: rs1553255506
rs1553255506
ACTA1
1 1.000 0.080 1 229432864 missense variant A/C snv 0.700 1.000 2 2009 2010
dbSNP: rs1558082053
rs1558082053
ACTA1
1 1.000 0.080 1 229432733 inframe deletion AAG/- delins 0.700 1.000 2 2011 2017