DisGeNET - a database of gene-disease associations

Li-Fraumeni Syndrome, C0085390

Variant: rs121913344 ×

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:

rs121913344

TP53

0.700

CausalMutation

CLINVAR

Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.

27726232

2017

dbSNP:

rs121913344

TP53

0.700

CausalMutation

CLINVAR

Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.

24382691

2014

dbSNP:

rs121913344

TP53

0.700

CausalMutation

CLINVAR

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

23255406

2013

dbSNP:

rs121913344

TP53

0.700

CausalMutation

CLINVAR

Three germline mutations in the TP53 gene.

9067756

1997