rs3748376
This variant is located in the ZNF592 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patientsAssociationN=2,028Caleb A. Lareau et al.(2015)· Annals of Clinical and Translational Neurology
This fine-mapping study identifies a highly significant association between rs75652600 in the ZNF592 gene and neurosarcoidosis in African-Americans (P = 3.12 × 10−8, OR = 4.34). The association is validated in European-Americans through identification of low-frequency variants in ZNF592 (chr15:85309284, P = 0.0021, OR = 5.36). ZNF592, a zinc finger protein involved in cerebral development, is implicated as a key genetic risk factor for neurosarcoidosis, a neurological subtype of sarcoidosis characterized by granulomas in the nervous system.
About ZNF592
This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
View all ZNF592 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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