DisGeNET - a database of gene-disease associations

rs397508983, BRCA1

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Mammary Neoplasms

CUI:	C1458155
Disease:	Mammary Neoplasms

385

1.000

17

43092959

stop gained

G/A;C

snv

4.0E-06

0.700

1.000

2016

2016

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

2277

1.000

17

43092959

stop gained

G/A;C

snv

4.0E-06

0.700