rs1004446

This is a downstream gene variant variant in the IGF2 gene.

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GWAS Catalog Trait Associations (1)

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

type 1 diabetes mellitus

Plagnol V et al. “Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.” Plos Genetics 7(8):e1002216 (2011)
Allele C
OR 1.40
p 3.0e-23
N 19,102
Large GWAS
European
Hakonarson H et al. “A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.” Nature 448(7153):591-4 (2007)
Allele C
OR 1.61
p 4.0e-9
N 2,171
Large GWAS
European

About IGF2

This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

View all IGF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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