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: rs1800682
rs1800682
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2013 2016
dbSNP: rs2234767
rs2234767
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2013 2014