rs75002882

This is a intron variant variant in the IFT43 gene.

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GWAS Catalog Trait Associations (1)

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

migraine disorder

Hautakangas H et al. “Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.” Nature Genetics 54(2):152-160 (2022)
Allele G
OR 1.17
p 9.0e-9
N 873,341
Large GWAS
European
Choquet H et al. “New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis.” Communications Biology 4(1):864 (2021)
Allele G
OR 0.86
p 2.0e-8
N 889,018
Meta-analysisLarge GWAS
European

About IFT43

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all IFT43 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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