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: 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: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.770 1.000 7 2008 2019
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.730 1.000 4 2008 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: rs2494748
rs2494748 		14 104792555 intron variant C/T snv 0.51 0.48
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2494748
rs2494748 		14 104792555 intron variant C/T snv 0.51 0.48
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2498796
rs2498796 		1.000 0.080 14 104776883 non coding transcript exon variant G/A snv 0.33
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs61759760
rs61759760 		14 104789850 intron variant C/T snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 14 2008 2019
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 1.000 6 2013 2019
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 1.000 5 2008 2017
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.050 1.000 5 2007 2010
dbSNP: rs2494732
rs2494732 		0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.050 0.800 5 2011 2019
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.040 1.000 4 2008 2016
dbSNP: rs2494732
rs2494732 		0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		Chemically-Induced Disorders; Mental Disorders 0.040 0.750 4 2011 2016
dbSNP: rs2494732
rs2494732 		0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C3160814
Disease: Cannabis use
Cannabis use 		0.040 0.750 4 2011 2019
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: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2007 2008
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2008 2017
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: rs2494732
rs2494732 		0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.030 0.667 3 2012 2019
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: 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