rs2016266
This variant is located in the SP7 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alkaline phosphatase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 6.0e-30
N 463,178
Large GWAS
multi-ancestry
bone tissue density
Estrada K et al. “Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.” Nature Genetics 44(5):491-501 (2012)
Allele A
OR —
β 0.050
p 3.0e-20
N 32,961
Meta-analysisLarge GWAS
multi-ancestry
Rivadeneira F et al. “Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.” Nature Genetics 41(11):1199-206 (2009)
Allele A
OR 0.07
p 1.0e-8
N 19,195
Meta-analysisLarge GWAS
European
About SP7
This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
View all SP7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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