DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80357019 ×

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:

rs80357019

BRCA1

0.700

GeneticVariation

CLINVAR

Toward classification of BRCA1 missense variants using a biophysical approach.

20378548

2010

dbSNP:

rs80357019

BRCA1

0.700

GeneticVariation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs80357019

BRCA1

0.700

GeneticVariation

CLINVAR

Functional impact of missense variants in BRCA1 predicted by supervised learning.

17305420

2007

dbSNP:

rs80357019

BRCA1

0.700

GeneticVariation

CLINVAR

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

15172985

2004

dbSNP:

rs80357019

BRCA1

0.700

GeneticVariation

CLINVAR

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

15133502

2004

dbSNP:

rs80357019

BRCA1

0.700

GeneticVariation

CLINVAR

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

15235020

2004

dbSNP:

rs80357019

BRCA1

0.700

GeneticVariation

CLINVAR

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.

12496477

2003