rs221796

This variant is located in the GIGYF1 gene.

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GWAS Catalog Trait Associations (1)

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

autoimmune thyroid disease

Saevarsdottir S et al. “FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.” Nature 584(7822):619-623 (2020)

Allele G

OR 1.10

p 7.0e-10

N 754,406

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; GIGYF1-related disorder

View on ClinVar →

About GIGYF1

This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]

View all GIGYF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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