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: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2017 2018
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2017 2018
dbSNP: rs2494744
rs2494744 		0.925 0.080 14 104789477 intron variant A/G snv 0.83
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2494744
rs2494744 		0.925 0.080 14 104789477 intron variant A/G snv 0.83
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752 		0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2498789
rs2498789 		0.925 0.080 14 104783708 intron variant A/G snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2498789
rs2498789 		0.925 0.080 14 104783708 intron variant A/G snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2498794
rs2498794 		14 104778914 intron variant A/G snv 0.54
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2498794
rs2498794 		14 104778914 intron variant A/G snv 0.54
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2494740
rs2494740 		0.925 0.080 14 104781544 intron variant A/T snv 0.61
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2494740
rs2494740 		0.925 0.080 14 104781544 intron variant A/T snv 0.61
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: 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