rs3019885
This is a upstream gene variant variant in the SLC30A8 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II StudyAssociationN=1,227White MJ et al.(2016)· Immunogenetics
This GWAS in 1,227 African American children identified novel genetic risk factors for asthma, including genome-wide significant variants in PTCHD3 (rs660498, p=2.20×10⁻⁷, OR=1.62) and suggestive associations in SEMA3E and INSR. Notably, only 5% of 53 previously reported asthma variants from European and Asian populations replicated in this African American cohort, emphasizing ethnic-specific genetic architecture and the importance of diverse populations in genetic research.
About SLC30A8
The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
View all SLC30A8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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