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: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2018 2018
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2012 2012
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2018 2018
dbSNP: rs397514645
rs397514645
AKT1
1.000 14 104770805 missense variant T/G snv
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6 		0.800 1.000 1 2013 2013
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: rs3803304
rs3803304
AKT1
0.882 0.160 14 104772809 intron variant C/G snv 0.24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs3803304
rs3803304
AKT1
0.882 0.160 14 104772809 intron variant C/G snv 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs3803304
rs3803304
AKT1
0.882 0.160 14 104772809 intron variant C/G snv 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2017 2017
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.050 0.800 5 2011 2019
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		0.040 0.750 4 2011 2016
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C3160814
Disease: Cannabis use
Cannabis use 		0.040 0.750 4 2011 2019
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.030 0.667 3 2012 2019
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.030 1.000 3 2006 2013
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2016 2016
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 1.000 1 2013 2013
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		0.010 1.000 1 2012 2012
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		0.010 1.000 1 2015 2015