rs2293370
This is a regulatory region variant variant in the TIMMDC1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
biliary liver cirrhosis
Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)
Allele G
OR 1.35
p 3.0e-11
N 7,003
Large GWAS
European
Nakamura M et al. “Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.” American Journal of Human Genetics 91(4):721-8 (2012)
Allele G
OR 1.48
p 3.0e-9
N 963
Small GWAS
East Asian
multiple sclerosis
Sawcer S et al. “Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.” Nature 476(7359):214-9 (2011)
Allele G
OR 1.13
p 3.0e-9
N 26,621
Large GWAS
European
primary biliary cirrhosis
Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele A
OR 0.30
p 6.0e-25
N 24,510
Meta-analysisLarge GWAS
European
Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele A
OR 1.42
p 4.0e-15
N 13,239
Meta-analysisLarge GWAS
European
Liu JZ et al. “Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 44(10):1137-41 (2012)
Allele A
OR 1.39
p 7.0e-16
N 11,375
Large GWAS
European
Hitomi Y et al. “POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.” Scientific Reports 9(1):102 (2019)
Allele A
OR 1.37
p 6.0e-9
N 3,574
Large GWAS
East Asian
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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