rs121913540

This is a synonymous variant in the ISL1 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →
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Research that mentions this SNP (1)

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Association of ISL1 polymorphisms and eosinophilic levels among otitis media patients
AssociationN=562Abhishek Kondyarpu et al.(2021)· Journal of Clinical Laboratory Analysis

A case-control study of 285 otitis media patients and 277 controls in an Indian population identified a significant association of ISL1 gene variants (rs2303751, rs121913540) with chronic otitis media and hearing-related disorders. The c.504A>G (rs2303751) variant showed OR 0.74 (95% CI 0.57-0.95, p=0.024), and c.513G>A (rs121913540) showed OR 0.43 (95% CI 0.20-0.91, p=0.03), both indicating protective effects. Secondary analysis revealed eosinophil percentage was significantly associated with the c.504A>G polymorphism (p<0.0001).

Traits studied:Chronic otitis mediaEosinophil levelsHearing lossOtitis media
PubMedDOIMetascience Observatory

About ISL1

This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]

View all ISL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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