rs7613610
This variant is located in the ABI3BP gene.
▶Research that mentions this SNP (1)
▶Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin–Beck diseaseAssociationN=3,769Feng Zhang et al.(2014)· Human Genetics
Genome-wide copy number variation study of 2,743 Chinese Han adults identified CNV452 (P = 7.78 × 10⁻⁵) overlapping ABI3BP gene as significantly associated with Kashin-Beck disease (KBD), a chronic osteochondropathy. Replication in 1,026 subjects confirmed rs9850273 (P = 0.008, OR = 1.35) and rs7613610 (P = 0.021, OR = 1.31) as significant SNP associations in ABI3BP. Gene expression analysis showed ABI3BP is up-regulated in KBD patients.
About ABI3BP
Predicted to enable actin filament binding activity. Predicted to be involved in several processes, including extracellular matrix organization; positive regulation of cell-substrate adhesion; and regulation of postsynapse organization. Located in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2025]
View all ABI3BP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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