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

rs121909231

PTEN

0.667

0.600

10

87961095

stop gained

C/A;T

snv

CUI:	C1335168
Disease:	Ovarian mucinous tumor

Ovarian mucinous tumor

0.700

dbSNP:

rs121909231

rs121909231

PTEN

0.667

0.600

10

87961095

stop gained

C/A;T

snv

CUI:	C2751642
Disease:	GLIOMA SUSCEPTIBILITY 2

GLIOMA SUSCEPTIBILITY 2

0.700

dbSNP:

rs121909231

rs121909231

PTEN

0.667

0.600

10

87961095

stop gained

C/A;T

snv

CUI:	C0040137
Disease:	Thyroid Nodule

Thyroid Nodule

0.700

dbSNP:

rs121909231

rs121909231

PTEN

0.667

0.600

10

87961095

stop gained

C/A;T

snv

CUI:	C0003467
Disease:	Anxiety

Anxiety

0.700