rs190809678

This variant is located in the IQSEC1 gene.

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GWAS Catalog Trait Associations (1)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele G

OR 0.05

p 3.0e-8

N 1,122,049

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

View on ClinVar →

About IQSEC1

Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in centrosome; cytosol; and nucleoplasm. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

View all IQSEC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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