DisGeNET - a database of gene-disease associations

rs121912664, TP53

N. diseases: 44

Disease: Mammary Neoplasms ×

Source: ALL

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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

Mammary Neoplasms

CUI:	C1458155
Disease:	Mammary Neoplasms

0.710

GeneticVariation

BEFREE

A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil.

2013

Mammary Neoplasms

CUI:	C1458155
Disease:	Mammary Neoplasms

0.710

CausalMutation

CLINVAR