rs8041863
This variant is located in the ACAN gene.
▶Research that mentions this SNP (1)
▶Genome-wide association scan for stature in Chinese: evidence for ethnic specific lociAssociationN=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.
About ACAN
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
View all ACAN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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