DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121909224 ×

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:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C1854416
Disease:	MACROCEPHALY/AUTISM SYNDROME

MACROCEPHALY/AUTISM SYNDROME

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C1510586
Disease:	Autism Spectrum Disorders

Autism Spectrum Disorders

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0241210
Disease:	Speech Delay

Speech Delay

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0040137
Disease:	Thyroid Nodule

Thyroid Nodule

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0424605
Disease:	Developmental delay (disorder)

Developmental delay (disorder)

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0027962
Disease:	Melanocytic nevus

Melanocytic nevus

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0013274
Disease:	Patent ductus arteriosus

Patent ductus arteriosus

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C1263846
Disease:	Attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder

0.700

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0919267
Disease:	ovarian neoplasm

ovarian neoplasm

0.700

1.000

2001

2010

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.710

1.000

1997

2013

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

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

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

0.700

1.000

1997

2013

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C1834712
Disease:	Cerebellar Granule Cell Hypertrophy and Megalencephaly

Cerebellar Granule Cell Hypertrophy and Megalencephaly

0.700

1.000

1997

2013

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C1834711
Disease:	CEREBELLOPARENCHYMAL DISORDER VI

CEREBELLOPARENCHYMAL DISORDER VI

0.700

1.000

1997

2013

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

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

Proteus-Like Syndrome (disorder)

0.700

1.000

1997

2013

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0391826
Disease:	Lhermitte-Duclos disease

Lhermitte-Duclos disease

0.700

1.000

1997

2013

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

1.000

1997

2014

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0006118
Disease:	Brain Neoplasms

Brain Neoplasms

0.700

1.000

2001

2014

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0153368
Disease:	Malignant neoplasm of floor of mouth

Malignant neoplasm of floor of mouth

0.700

1.000

2011

2014

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0017636
Disease:	Glioblastoma

Glioblastoma

0.700

1.000

2016

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

1.000

2016

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0153574
Disease:	Malignant Uterine Corpus Neoplasm

Malignant Uterine Corpus Neoplasm

0.700

1.000

2016

dbSNP:

rs121909224

PTEN

0.627

0.560

87933147

stop gained

C/G;T

snv

1.2E-05

CUI:	C0278701
Disease:	Gastric Adenocarcinoma

Gastric Adenocarcinoma

0.700

1.000

2016