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: rs11847866
rs11847866 		1.000 0.040 14 104788868 intron variant G/A snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2010 2010
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: 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
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 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: 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 2010 2010
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
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: rs2494732
rs2494732 		0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs2498801
rs2498801 		0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs2498801
rs2498801 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3730358
rs3730358 		0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2494732
rs2494732 		0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2006 2013
dbSNP: rs2494732
rs2494732 		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 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs397514644
rs397514644 		0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6 		0.800 1.000 1 2013 2013
dbSNP: rs397514645
rs397514645 		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: 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: 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: 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2008 2015
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