rs1224040268, PTEN

N. diseases: 12
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.
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
GLIOMA SUSCEPTIBILITY 2
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
6 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
16 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 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 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
VACTERL Association With Hydrocephalus
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
7 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0