rs114518130

This is a intron variant variant in the IGFBP7 gene.

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GWAS Catalog Trait Associations (1)

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

infant grey matter volume measurement

Xia K et al. “Genome-wide association analysis identifies common variants influencing infant brain volumes.” Translational Psychiatry 7(8):e1188 (2017)

Allele G

OR 6.13

p 4.0e-10

N 428

Small GWAS

multi-ancestry

About IGFBP7

This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]

View all IGFBP7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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