rs1059310

This variant is located in the SOS1 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 height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.01

p 5.0e-22

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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ClinVar annotation

Benign★★★☆

4 submitters1 publication

Fibromatosis, gingival, 1; Noonan syndrome 4; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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A Functional SNP Catalog of Overlapping miRNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders

FunctionalReuben Saba et al.(2014)· Human Mutation

This functional study identifies 119 SNPs in miRNA-binding sites within 3'UTRs of 53 genes implicated in prion disease and other neurodegenerative disorders. The paper uses bioinformatics to predict SNPs affecting miRNA binding and experimentally validates key interactions, particularly rs9291296 in GABRα4 which strengthens miR-26a-5p binding (ΔΔG = 2.3 kcal/mol). The study finds that GABA receptor subunits are notably enriched for miRNA-targeting SNPs.

Traits studied:Alzheimer's diseaseAmyotrophic Lateral SclerosisAutismEpilepsyHuntington's diseaseMood disordersNeurodegenerationNeurodevelopmental disordersParkinson's diseasePrion diseaseSchizophreniaTaupathiesTemporal lobe epilepsy

PubMed DOI Metascience Observatory

About SOS1

This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]