DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121909231 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.730

1.000

1997

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0391826
Disease:	Lhermitte-Duclos disease

Lhermitte-Duclos disease

0.720

1.000

1997

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

1.000

2001

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

2001

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

1.000

1997

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1834712
Disease:	Cerebellar Granule Cell Hypertrophy and Megalencephaly

Cerebellar Granule Cell Hypertrophy and Megalencephaly

0.700

1.000

1997

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.700

1.000

1997

2014

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1866376
Disease:	Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

0.700

1.000

1997

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1866398
Disease:	Proteus-Like Syndrome (disorder)

Proteus-Like Syndrome (disorder)

0.700

1.000

1997

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1834711
Disease:	CEREBELLOPARENCHYMAL DISORDER VI

CEREBELLOPARENCHYMAL DISORDER VI

0.700

1.000

1997

2015

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0006118
Disease:	Brain Neoplasms

Brain Neoplasms

0.700

1.000

2014

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C2751642
Disease:	GLIOMA SUSCEPTIBILITY 2

GLIOMA SUSCEPTIBILITY 2

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0040137
Disease:	Thyroid Nodule

Thyroid Nodule

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0003467
Disease:	Anxiety

Anxiety

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1848599
Disease:	VACTERL Association With Hydrocephalus

VACTERL Association With Hydrocephalus

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0018552
Disease:	Hamartoma

Hamartoma

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0919267
Disease:	ovarian neoplasm

ovarian neoplasm

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C3551915
Disease:	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0162538
Disease:	Immunoglobulin A deficiency (disorder)

Immunoglobulin A deficiency (disorder)

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0600104
Disease:	Obsessive compulsive behavior

Obsessive compulsive behavior

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.700

dbSNP:

rs121909231

PTEN

0.667

0.600

87961095

stop gained

C/A;T

snv

CUI:	C0008073
Disease:	Developmental Disabilities

Developmental Disabilities

0.700