rs10787738

This is a intron variant variant in the SHTN1 gene.

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GWAS Catalog Trait Associations (2)

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

social inhibition quality, attention deficit hyperactivity disorder, substance abuse

Karlsson Linnér R et al. “Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.” Nature Neuroscience 24(10):1367-1376 (2021)

Allele C

OR 0.01

p 3.0e-19

N 2,776,348

Large GWAS

European

fat pad mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele T

OR 0.02

p 5.0e-11

N 337,196

Large GWAS

European

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Research that mentions this SNP (1)

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Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians

AssociationN=993Jane C. Figueiredo et al.(2014)· American Journal of Medical Genetics Part A

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

Traits studied:Cleft lip with or without cleft palateNon-syndromic cleft lipNon-syndromic cleft palateOrofacial clefts

PubMed DOI Metascience Observatory

About SHTN1

Enables identical protein binding activity. Involved in positive regulation of neuron migration. Located in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Jul 2025]