rs7799141

This is a intron variant variant in the CHCHD3 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

self reported educational attainment

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)

Allele A

OR 0.01

p 5.0e-11

N 1,131,881

Large GWAS

European

About CHCHD3

The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

View all CHCHD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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