DisGeNET - a database of gene-disease associations

Variant: rs750553272 ×

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:

rs750553272

NFE2L2

0.010

GeneticVariation

BEFREE

Among these mutations, the KEAP1 (p.R470C) and 3 NRF2 mutations (p.D29Y, p.D77A, and p.G81D) were detected in cervical cancer for the first time.

2018