DisGeNET - a database of gene-disease associations

rs2242652, TERT

N. diseases: 16

Disease: Esophageal carcinoma ×

Source: BEFREE ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Esophageal carcinoma

CUI:	C0152018
Disease:	Esophageal carcinoma

0.010

GeneticVariation

BEFREE

Of the four SNPs examined, rs10069690 and rs2242652 were correlated with esophageal cancer risk.

2017