DisGeNET - a database of gene-disease associations

Squamous cell carcinoma of esophagus, C0279626

Variant: rs78378222 ×

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:

rs78378222

rs78378222

TP53

0.010

GeneticVariation

BEFREE

These results suggest that this functional uncommon P53 rs78378222 variant is associated with ESCC risk in the current Han Chinese population.

2012