rs121917877

This is a variant in the SSTR5 gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (1)

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

IGF-1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.34

p 1.0e-13

N 353,824

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

3 submitters2 publications

View on ClinVar →

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Research that mentions this SNP (1)

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Disease variants in genomes of 44 centenarians

Case reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics & Genomic Medicine

Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.

Traits studied:Aging and longevityAlzheimer's diseaseAmyotrophic lateral sclerosisBecker muscular dystrophyBrugada syndromeCancer/NeoplasmCardiac arrhythmiaCardiomyopathyDeafnessDementia with Lewy bodiesDiabetesDuchenne muscular dystrophyEhlers-Danlos syndromeGaucher diseaseGlaucomaHypercholesterolemiaIchthyosisKeratoconusLong QT syndromeObesityParkinson's diseasePremature ovarian failureRetinitis pigmentosa

PubMed DOI Metascience Observatory

About SSTR5

Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]