Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2008 2008
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2007 2008
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2007 2008
dbSNP: rs2304186
rs2304186
AKT2
0.925 0.160 19 40233814 3 prime UTR variant G/T snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2011 2011
dbSNP: rs2304186
rs2304186
AKT2
0.925 0.160 19 40233814 3 prime UTR variant G/T snv 0.39
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2016 2016
dbSNP: rs3730050
rs3730050
AKT2
19 40265075 intron variant T/C snv 0.73
CUI: C0686377
Disease: CNS metastases
CNS metastases 		0.010 1.000 1 2017 2017
dbSNP: rs3730051
rs3730051
AKT2
1.000 0.120 19 40238790 intron variant T/C snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs3730256
rs3730256
AKT2 ; LOC107985289
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 		0.010 1.000 1 2019 2019
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.010 1.000 1 2017 2017
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2007 2007
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C1153706
Disease: Endometrial adenocarcinoma
Endometrial adenocarcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs7247515
rs7247515
AKT2
0.925 0.080 19 40250008 intron variant C/T snv 0.12
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs7250897
rs7250897
AKT2
0.882 0.080 19 40277326 intron variant T/A;C snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs7250897
rs7250897
AKT2
0.882 0.080 19 40277326 intron variant T/A;C snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs7254617
rs7254617
AKT2
0.882 0.120 19 40285605 upstream gene variant G/A;C;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2016 2016
dbSNP: rs7254617
rs7254617
AKT2
0.882 0.120 19 40285605 upstream gene variant G/A;C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs7254617
rs7254617
AKT2
0.882 0.120 19 40285605 upstream gene variant G/A;C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs7254617
rs7254617
AKT2
0.882 0.120 19 40285605 upstream gene variant G/A;C;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2012 2012