rs8396

This is a downstream gene variant variant in the ETFDH gene.

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GWAS Catalog Trait Associations (6)

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

carnitine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele T
OR 23.14
p 2.0e-118
N 31,934
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.03
p 9.0e-13
N 7,660
Large GWAS
European

decanoylcarnitine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.05
p 9.0e-38
N 7,766
Large GWAS
European
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele T
OR 0.10
p 2.0e-18
N 2,733
Large GWAS
European

octanoylcarnitine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.05
p 1.0e-31
N 7,790
Large GWAS
European
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele T
OR 0.08
p 3.0e-14
N 2,732
Large GWAS
European

peptidyl-prolyl cis-trans isomerase D measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele C
OR 0.50
p 3.0e-26
N 997
Small GWAS
multi-ancestry

metabolite measurement

Illig T et al. “A genome-wide perspective of genetic variation in human metabolism.” Nature Genetics 42(2):137-41 (2010)
Allele T
OR 0.10
p 4.0e-24
N 1,029
Large GWAS
European
Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)
Allele T
OR —
β 0.098
p 6.0e-15
N 2,820
Large GWAS
European

About ETFDH

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

View all ETFDH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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