rs1060500126, PTEN

N. diseases: 8
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 0.790 0.160 10 87933223 missense variant A/C;G snv 0.800 1.000 3 2004 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 1.000 14 2001 2015
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 1.000 8 2000 2016
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.790 0.160 10 87933223 missense variant A/C;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 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 0