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: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		Neoplasms 0.030 1.000 3 2015 2018
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2008 2019
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2009 2010
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2013 2020
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.020 1.000 2 2007 2010
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
dbSNP: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
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: rs1130233
rs1130233 		0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 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: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C3282896
Disease: Glandular papilloma
Glandular papilloma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010