Gene: NFE2L2 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519922
rs1057519922
NFE2L2
0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201

2017
dbSNP: rs1553487942
rs1553487942
NFE2L2
0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201

2017
dbSNP: rs1553487947
rs1553487947
NFE2L2
0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201

2017
dbSNP: rs1553488015
rs1553488015
NFE2L2
0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201

2017
dbSNP: rs1057519922
rs1057519922
NFE2L2
T 0.800 CausalMutation CLINVAR

dbSNP: rs1553487942
rs1553487942
NFE2L2
T 0.800 CausalMutation CLINVAR

dbSNP: rs1553487947
rs1553487947
NFE2L2
T 0.800 CausalMutation CLINVAR

dbSNP: rs1553488015
rs1553488015
NFE2L2
T 0.800 CausalMutation CLINVAR