rs4688011
This is a regulatory region variant variant in the TIMMDC1 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 TIMMDC1
Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Jul 2025]
View all TIMMDC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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