DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Mammary Neoplasms ×

Variant: rs1057519827 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057519827

ESR1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

GeneticVariation

CLINVAR

Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer.

24398047

2014

dbSNP:

rs1057519827

ESR1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

GeneticVariation

CLINVAR

Activating ESR1 mutations in hormone-resistant metastatic breast cancer.

24185510

2013

dbSNP:

rs1057519827

ESR1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

GeneticVariation

CLINVAR

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

24185512

2013