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: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2019 2019
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.010 1.000 1 2015 2015
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.010 1.000 1 2017 2017
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		0.010 < 0.001 1 2019 2019
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2012 2012
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		0.010 < 0.001 1 2019 2019
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