rs1085308041, 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 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 1 2017 2017
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 0
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 1 2017 2017
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 1 2017 2017
Lipoma
CUI: C0023798
Disease: Lipoma
9 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 4 2009 2017
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 1 2017 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 6 2000 2017
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 1 2017 2017