rs2230578

This variant is located in the ROR2 gene.

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GWAS Catalog Trait Associations (1)

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

facial morphology trait

White JD et al. “Insights into the genetic architecture of the human face.” Nature Genetics 53(1):45-53 (2021)

Allele C

OR —

p 6.0e-9

N 3,566

Large GWAS

European

Xiong Z et al. “Novel genetic loci affecting facial shape variation in humans.” Elife 8 (2019)

Allele C

OR —

β 0.087

p 9.0e-9

N 10,115

Large GWAS

European

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ClinVar annotation

Benign★★★☆

6 submitters1 publication

not specified; Autosomal recessive Robinow syndrome; Brachydactyly type B1; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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A significant association exists between receptor tyrosine kinase-like orphan receptor 2 gene variants and the OPG/RANKL ratio in human plasma

AssociationN=865Ermakov S. et al.(2012)· Osteoporosis International

This study examined associations between 19 ROR2 gene SNPs and bone-related phenotypes in 865 Caucasian individuals. ROR2 polymorphisms in intron 1 were significantly associated with OPG/RANKL ratio and hand osteoarthritis severity. The strongest associations were with rs7048756 (p<0.0005 for OPG/RANKL) and rs4744107 (p=0.006 for Kellgren/Lawrence score), with five associations remaining significant after multiple testing correction (FDR<0.05).

Traits studied:Bone mineral densityHand osteoarthritisOPG/RANKL ratioOsteoarthritisOsteoporosis

PubMed DOI Metascience Observatory

About ROR2

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]