Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.820 1.000 0 1997 2015
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0027960
Disease: Nevus
Nevus 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C4531112
Disease: Penile freckling
Penile freckling 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0023798
Disease: Lipoma
Lipoma 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0