AKT2, AKT serine/threonine kinase 2, 208

N. diseases: 264; N. variants: 18
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: rs3730256
rs3730256
1.000 0.080 19 40255305 splice region variant G/A snv 8.4E-02 9.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs387906659
rs387906659
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs7247515
rs7247515
0.925 0.080 19 40250008 intron variant C/T snv 0.12
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019