DisGeNET - a database of gene-disease associations

Craniosynostosis, C0010278

Variant: rs10246939 ×

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:

rs10246939

rs10246939

TAS2R38 ; MGAM

0.010

GeneticVariation

BEFREE

This study replicates previous work which showed that the coding SNP rs10246939 in the TAS2R38 gene is associated with CRS.

2014