ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906592
rs387906592
0.752 0.280 10 88941309 missense variant C/T snv
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2013 2014
dbSNP: rs886039303
rs886039303
0.882 0.160 10 88941310 missense variant G/A snv
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017