rs1085308043, 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.
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 3 1998 2017
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
Lipoma
CUI: C0023798
Disease: Lipoma
9 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0