rs121909231, PTEN

N. diseases: 32
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 0.667 0.600 10 87961095 stop gained C/A;T snv 0.730 1.000 8 1997 2015
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.667 0.600 10 87961095 stop gained C/A;T snv 0.720 1.000 8 1997 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 14 2001 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 14 2001 2015
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 9 1997 2015
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 7 1997 2015
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 7 1997 2015
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 7 1997 2014
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 7 1997 2015
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 7 1997 2015
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 1 2014 2014
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
19 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
GLIOMA SUSCEPTIBILITY 2
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
6 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Hamartoma
CUI: C0018552
Disease: Hamartoma
8 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Immunoglobulin A deficiency (disorder)
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
25 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
16 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Obsessive compulsive behavior
CUI: C0600104
Disease: Obsessive compulsive behavior
16 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
Ovarian mucinous tumor
CUI: C1335168
Disease: Ovarian mucinous tumor
1 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0