AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
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: rs1038322721
rs1038322721 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519804
rs1057519804 		1.000 0.040 14 104776711 missense variant G/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1057519804
rs1057519804 		1.000 0.040 14 104776711 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1130214
rs1130214 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.020 1.000 2 2016 2018
dbSNP: rs1130214
rs1130214 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214 		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 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214 		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 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs1130214
rs1130214 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1130214
rs1130214 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214 		0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214 		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 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1130233
rs1130233 		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 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0006625
Disease: Cachexia
Cachexia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018