DisGeNET - a database of gene-disease associations

rs17882252, TP53

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.

Li-Fraumeni Syndrome

CUI:	C0085390
Disease:	Li-Fraumeni Syndrome

206

0.925

0.120

17

7670694

stop gained

C/A;G;T

snv

8.0E-06; 6.4E-05

0.700

1.000

1998

2016

LI-FRAUMENI SYNDROME 1

CUI:	C1835398
Disease:	LI-FRAUMENI SYNDROME 1

39

0.925

0.120

17

7670694

stop gained

C/A;G;T

snv

8.0E-06; 6.4E-05

0.700