rs7187776
This variant is located in the TUFM gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
red blood cell density
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR —
p 1.0e-35
N 727,624
Large GWAS
multi-ancestry
C-reactive protein measurement
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.02
p 5.0e-21
N 575,531
Large GWAS
European
gait quality
Timmins IR et al. “Genome-wide association study of self-reported walking pace suggests beneficial effects of brisk walking on health and survival.” Communications Biology 3(1):634 (2020)
Allele A
OR 0.01
p 2.0e-13
N 450,967
Large GWAS
European
glomerular filtration rate
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele A
OR 0.00
p 1.0e-11
N 765,348
Large GWAS
multi-ancestry
serum creatinine amount
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.01
p 8.0e-11
N 928,679
Large GWAS
multi-ancestry
BMI-adjusted hip circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.02
p 4.0e-8
N 143,480
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
3 submitters1 publicationCombined oxidative phosphorylation defect type 4; not provided
View on ClinVar →About TUFM
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
View all TUFM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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