DisGeNET - a database of gene-disease associations

Craniosynostosis, C0010278

Variant: rs776587763 ×

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:

rs776587763

rs776587763

FGFR2

0.710

GeneticVariation

BEFREE

C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.

2017

dbSNP:

rs776587763

rs776587763

FGFR2

A

0.710

CausalMutation

CLINVAR