Gene: ACTA1 ×
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: rs121909529
rs121909529
ACTA1
1 1.000 0.080 1 229431830 missense variant T/A snv 0.800 1.000 2 2004 2007
dbSNP: rs121909530
rs121909530
ACTA1
1 1.000 0.080 1 229432134 missense variant A/G snv 0.800 1.000 2 2004 2007
dbSNP: rs121909531
rs121909531
ACTA1
1 1.000 0.080 1 229431633 missense variant G/A snv 0.800 1.000 2 2004 2007
dbSNP: rs367543048
rs367543048
ACTA1
2 0.925 0.080 1 229433100 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs367543049
rs367543049
ACTA1
2 0.925 0.080 1 229432867 missense variant C/T snv 0.700 0
dbSNP: rs367543050
rs367543050
ACTA1
1 1.000 0.080 1 229432181 missense variant C/G snv 0.700 0
dbSNP: rs367543051
rs367543051
ACTA1
2 0.925 0.080 1 229432075 missense variant C/T snv 0.700 0