rs6060369

This is a regulatory region variant variant in the UQCC1 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele C
OR 0.07
p 4.0e-36
N 67,452
Large GWAS
East Asian
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele C
OR 0.06
p 8.0e-32
N 36,227
Meta-analysisLarge GWAS
East Asian
Lettre G et al. “Identification of ten loci associated with height highlights new biological pathways in human growth.” Nature Genetics 40(5):584-591 (2008)
Allele C
OR 0.44
p 1.0e-16
N 15,821
Large GWAS
European
Sanna S et al. “Common variants in the GDF5-UQCC region are associated with variation in human height.” Nature Genetics 40(2):198-203 (2008)
Allele C
OR 0.44
p 2.0e-16
N 6,669
Large GWAS
multi-ancestry

hip geometry

Faber BG et al. “The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.” Human Molecular Genetics 34(3):207-217 (2025)
Allele T
OR 0.04
p 6.0e-11
N 43,485
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature
PubMedDOIMetascience Observatory

About UQCC1

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

View all UQCC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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