DisGeNET - a database of gene-disease associations

Paranasal sinus teratocarcinosarcoma (type), C2930987

Variant: rs121913409 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913409

rs121913409

CTNNB1

0.010

GeneticVariation

BEFREE

<b>Results</b> We identified an activating p.S45F mutation in β-catenin in our index sinonasal teratocarcinosarcoma.

2017