DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, C2675520

Variant: rs80359671 ×

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs80359671

rs80359671

BRCA2

4

0.882

0.200

13

32331004

frameshift variant

TCAAA/-

delins

8.0E-06

0.700

1.000

1996

2013