AKT2, AKT serine/threonine kinase 2, 208

N. diseases: 264; N. variants: 18
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: rs121434593
rs121434593 		1.000 0.080 19 40237979 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 2004 2013
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.800 1.000 1 2011 2011
dbSNP: rs1057519754
rs1057519754 		19 40236313 missense variant T/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2005 2014
dbSNP: rs778561687
rs778561687 		0.851 0.080 19 40235953 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2012 2014
dbSNP: rs11880261
rs11880261 		1.000 0.040 19 40282734 5 prime UTR variant T/C snv 0.76
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs16974157
rs16974157 		1.000 0.040 19 40267017 intron variant C/A snv 0.18
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7247515
rs7247515 		0.925 0.080 19 40250008 intron variant C/T snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7250897
rs7250897 		0.882 0.080 19 40277326 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs969531
rs969531 		1.000 0.040 19 40272959 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9710247
rs9710247 		19 40254542 intron variant A/G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.020 1.000 2 2007 2008
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2007 2008
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2008 2008
dbSNP: rs2304186
rs2304186 		0.925 0.160 19 40233814 3 prime UTR variant G/T snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs2304186
rs2304186 		0.925 0.160 19 40233814 3 prime UTR variant G/T snv 0.39
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: rs3730050
rs3730050 		19 40265075 intron variant T/C snv 0.73
CUI: C0686377
Disease: CNS metastases
CNS metastases 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3730051
rs3730051 		1.000 0.120 19 40238790 intron variant T/C snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3730256
rs3730256 		1.000 0.080 19 40255305 splice region variant G/A snv 8.4E-02 9.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs387906659
rs387906659 		0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2008 2008