Source: ALL

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: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2017 2018
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2017 2018
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.020 1.000 2 2016 2018
dbSNP: rs1038322721
rs1038322721
AKT1
1.000 0.080 14 104775774 missense variant T/C snv 7.0E-06
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.010 1.000 1 2019 2019
dbSNP: rs1057519804
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519804
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2016 2016
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 1 2010 2010
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2016 2016
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs11847866
rs11847866
AKT1
1.000 0.040 14 104788868 intron variant G/A snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 1 2010 2010
dbSNP: rs1361898625
rs1361898625
AKT1
1.000 0.040 14 104776718 synonymous variant G/A snv
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid 		0.010 1.000 1 2016 2016
dbSNP: rs201227909
rs201227909
AKT1
0.925 0.160 14 104770839 synonymous variant T/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs201227909
rs201227909
AKT1
0.925 0.160 14 104770839 synonymous variant T/C snv
CUI: C0206180
Disease: Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1+ Anaplastic Large Cell Lymphoma 		0.010 1.000 1 2018 2018
dbSNP: rs2494737
rs2494737
AKT1
0.925 0.080 14 104779988 intron variant T/A snv 0.40
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2016 2016
dbSNP: rs2494737
rs2494737
AKT1
0.925 0.080 14 104779988 intron variant T/A snv 0.40
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2494738
rs2494738
AKT1
1.000 0.080 14 104780349 intron variant G/A snv 1.0E-01
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2017 2017
dbSNP: rs2494740
rs2494740
AKT1
0.925 0.080 14 104781544 intron variant A/T snv 0.61
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018