PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
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: rs11202607
rs11202607 		1.000 0.080 10 87967657 3 prime UTR variant C/T snv 6.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.050 1.000 5 2012 2020
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2017 2017
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2017 2017
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs701848
rs701848 		0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs876660879
rs876660879 		10 87965472 stop lost A/C;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2005 2014
dbSNP: rs1554826052
rs1554826052 		10 87965387 frameshift variant -/AT ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1999 2014
dbSNP: rs1554826049
rs1554826049 		10 87965374 frameshift variant TGAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs797045066
rs797045066 		1.000 0.200 10 87965303 frameshift variant -/A delins
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs1554826024
rs1554826024 		10 87965294 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1997 2013
dbSNP: rs1564570283
rs1564570283 		1.000 0.120 10 87965294 frameshift variant TGTACTTCACAAAAACA/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1057517809
rs1057517809 		0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057517809
rs1057517809 		0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1057517809
rs1057517809 		0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1057517809
rs1057517809 		0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2000 2017
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2009 2017
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017