rs1937

This is a variant in the TFAM gene that changes a serine to an threonine.

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ClinVar annotation

Benign★★★☆
5 submitters2 publications

TFAM-related disorder

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Research that mentions this SNP (1)

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The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes
AssociationN=2,555Ildus I. Ahmetov et al.(2009)· Human Genetics

This case-control study of 1,423 Russian athletes and 1,132 controls examined 15 metabolic gene polymorphisms associated with elite endurance athlete status. Ten 'endurance alleles' were identified: rs4253778 (PPARA), rs2016520 (PPARD), rs8192678 (PPARGC1A), rs7732671 (PPARGC1B), rs1937 (TFAM), rs660339 (UCP2), rs1800849 (UCP3), rs2010963 (VEGFA), NFATC4 rs2229309, and PPP3R1 promoter 5I. The proportion of subjects with ≥9 endurance alleles was significantly higher in elite endurance athletes versus controls (85.7% vs 37.8%, P=7.6×10⁻⁶). The number of endurance alleles positively correlated with slow-twitch muscle fiber proportion (r=0.50, P=4.0×10⁻⁴) and maximal oxygen consumption (r=0.46, P=7.0×10⁻⁴).

Traits studied:Elite endurance athlete statusMaximal oxygen consumption (VO2max)Slow-twitch muscle fiber proportion
PubMedDOIMetascience Observatory

About TFAM

This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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