rs73507341

This variant is located in the NFIX gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variation contributes to gene expression response in ischemic stroke: an eQTL study
AssociationN=275Hajar Amini et al.(2020)· Annals of Clinical and Translational Neurology

This eQTL study examined 137 ischemic stroke patients and 138 controls to identify SNP-gene associations affecting blood gene expression. The analysis identified 4 significant cis-eQTLs and 70 trans-eQTLs with genotype-diagnosis interactions. Key findings include rs56348411 (NRGN, p=2.10×10⁻⁸), rs78046578 (CXCL10), rs975903 (SMAD4), and rs62299879 (CD38) affecting inflammatory response genes, plus rs148791848 as a strong trans-eQTL for ANOS1 involved in neural cell adhesion.

Traits studied:Axonal migrationGene expression response to ischemic strokeInflammatory response to strokeIschemic strokeNeural cell adhesion
PubMedDOIMetascience Observatory

About NFIX

The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

View all NFIX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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