DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs62625308 ×

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:

rs62625308

BRCA1

0.700

CausalMutation

CLINVAR

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

28324225

2017

dbSNP:

rs62625308

BRCA1

0.700

CausalMutation

CLINVAR

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

24010542

2014

dbSNP:

rs62625308

BRCA1

0.700

CausalMutation

CLINVAR

Family history and BRCA1/BRCA2 status among Japanese ovarian cancer patients and occult cancer in a BRCA1 mutant case.

24218521

2014

dbSNP:

rs62625308

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

22752604

2012

dbSNP:

rs62625308

BRCA1

0.700

CausalMutation

CLINVAR

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

21324516

2011

dbSNP:

rs62625308

BRCA1

0.700

CausalMutation

CLINVAR

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

22006311

2011

dbSNP:

rs62625308

BRCA1

0.700

CausalMutation

CLINVAR

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

7894493

1994