ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Connective Tissue Diseases ×
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: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.700 0