DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Malignant Neoplasms ×

Variant: rs267606704 ×

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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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267606704

rs267606704

CBL

CUI:	C0006826
Disease:	Malignant Neoplasms

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

Tumor analysis using the OncoKids<sup>®</sup> cancer panel revealed a CBL pathogenic variant: NM_005188.3:c.1100A>C (p.Gln367Pro).

2019