rs12411988
This is a intron variant variant in the REEP3 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13AssociationN=12,240Susan D. Thompson et al.(2012)· Arthritis & Rheumatism
A GWAS of juvenile idiopathic arthritis in 814 cases and 3058 controls identified novel susceptibility loci at 3q13 and 10q21. The most significant associations were at rs4688011 (C3orf1/CD80, OR=1.37, P=1.88×10⁻⁶), rs6479891 (JMJD1C, OR=1.59, P=6.1×10⁻⁸), rs12411988 (JMJD1C, OR=1.57, P=1.16×10⁻⁷), and rs10995450 (NRBF2-EGR2, OR=1.31, P=6.74×10⁻⁵). Replication and meta-analysis in 1744 cases and 7010 controls confirmed associations for the four loci. eQTL analysis showed cis associations with C3orf1 and JMJD1C expression.
About REEP3
Predicted to enable microtubule binding activity. Involved in mitotic nuclear membrane reassembly. Predicted to be located in endoplasmic reticulum; membrane; and microtubule. Predicted to be active in cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Jul 2025]
View all REEP3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…