rs75143612
This is a downstream gene variant variant in the PHF20L1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
thyroglobulin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.20
p 2.0e-32
N 47,745
Large GWAS
European
Thyroid stimulating hormone level
Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)
Allele G
OR 0.16
p 2.0e-30
N 164,818
Large GWAS
European
Hashimoto's thyroiditis
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 C
OR 0.38
p 2.0e-19
N 1,815,514
Large GWAS
multi-ancestry
goiter
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.58
p 8.0e-10
N 633,436
Large GWAS
multi-ancestry
Graves disease
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 C
OR 0.24
p 1.0e-8
N 1,881,665
Large GWAS
European
About PHF20L1
Enables methylation-dependent protein binding activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process. Predicted to be located in nucleoplasm. Predicted to be part of NSL complex. [provided by Alliance of Genome Resources, Jul 2025]
View all PHF20L1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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