DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80357783 ×

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:

rs80357783

BRCA1 ; NBR2

0.700

CausalMutation

CLINVAR

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

25863477

2015

dbSNP:

rs80357783

BRCA1 ; NBR2

0.700

CausalMutation

CLINVAR

Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation.

20189727

2010

dbSNP:

rs80357783

BRCA1 ; NBR2

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

16998791

2006

dbSNP:

rs80357783

BRCA1 ; NBR2

0.700

CausalMutation

CLINVAR

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core.

8807330

1996