rs2164983
This is a downstream gene variant variant in the NFILZ gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hypothyroidism
White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele A
OR 0.03
p 2.0e-13
N 2,444,128
Large GWAS
multi-ancestry
atopic eczema
Paternoster L et al. “Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.” Nature Genetics 47(12):1449-1456 (2015)
Allele A
OR 1.12
p 2.0e-11
N 116,863
Large GWAS
multi-ancestry
Paternoster L et al. “Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.” Nature Genetics 44(2):187-92 (2011)
Allele A
OR 1.16
p 7.0e-9
N 26,171
Meta-analysisLarge GWAS
European
endometriosis
Shigesi N et al. “The phenotypic and genetic association between endometriosis and immunological diseases.” Human Reproduction (oxford, England) 40(6):1195-1209 (2025)
Allele C
OR 0.02
p 2.0e-8
N 217,530
Large GWAS
European
About NFILZ
Predicted to enable DNA binding activity and DNA-binding transcription factor activity. Predicted to be involved in circadian rhythm and regulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all NFILZ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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