rs121909222, PTEN

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.742 0.240 10 87933127 missense variant A/G snv 0.800 1.000 20 1997 2008
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.742 0.240 10 87933127 missense variant A/G snv 0.700 1.000 1 1999 1999
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.742 0.240 10 87933127 missense variant A/G snv 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.742 0.240 10 87933127 missense variant A/G snv 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.742 0.240 10 87933127 missense variant A/G snv 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.742 0.240 10 87933127 missense variant A/G snv 0.700 0
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.742 0.240 10 87933127 missense variant A/G snv 0.700 0
Basal-Like Breast Carcinoma
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
9 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
PATENT DUCTUS ARTERIOSUS 1
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
12 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
Secondary malignant neoplasm of lung
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
20 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016