rs1131265
This variant is located in the TIMMDC1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
multiple sclerosis
Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele C
OR 1.17
p 1.0e-23
N 38,589
Large GWAS
European
primary biliary cirrhosis
Juran BD et al. “Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.” Human Molecular Genetics 21(23):5209-21 (2012)
Allele G
OR 1.42
p 5.0e-9
N 7,810
Large GWAS
European
▶ClinVar annotation
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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