rs121909218, PTEN

N. diseases: 14
Source: CLINVAR ×
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
98 0.672 0.360 10 87933145 missense variant G/A snv 0.820 1.000 0 1997 2015
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Hamartomatous polyposis
CUI: C3272802
Disease: Hamartomatous polyposis
2 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
58 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Lipoma
CUI: C0023798
Disease: Lipoma
8 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Nevus
CUI: C0027960
Disease: Nevus
7 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
5 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0