rs13028464

This is a regulatory region variant variant in the NFE2L2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum creatinine amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 2.0e-23
N 601,544
Major Consortium StudyLarge GWAS
multi-ancestry

glomerular filtration rate

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 3.0e-21
N 571,234
Major Consortium StudyLarge GWAS
multi-ancestry

visceral:abdominal adipose tissue ratio measurement

Agrawal S et al. “Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.” Nature Communications 13(1):3771 (2022)
Allele C
OR 0.04
p 5.0e-8
N 38,965
Large GWAS
European, East Asian, South Asian, African unspecified, NR

About NFE2L2

This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]

View all NFE2L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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