DisGeNET - a database of gene-disease associations

rs1131691014, TP53

N. diseases: 214

Disease: Malignant neoplasm of breast ×

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.

Malignant neoplasm of breast

CUI:	C0006142
Disease:	Malignant neoplasm of breast

3417

0.439

0.800

17

7676154

frameshift variant

-/C

ins

0.100

0.833

2003

2018