rs28377268

This variant is located in the PTCH1 gene.

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GWAS Catalog Trait Associations (5)

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

Abnormality of the skeletal system

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 5.0e-12
N 394,642
Large GWAS
European

spine bone mineral density

Styrkarsdottir U et al. “Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.” Nature Communications 7:10129 (2016)
Allele T
OR 0.09
p 1.0e-11
N 20,132
Large GWAS
multi-ancestry

forced expiratory volume, 25-hydroxyvitamin D3 measurement

Seo J et al. “Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.” The American Journal of Clinical Nutrition 119(5):1227-1237 (2024)
Allele G
OR —
p 6.0e-10
N 115,312
Meta-analysisLarge GWAS
multi-ancestry

neurotic disorder

Cai N et al. “Minimal phenotyping yields genome-wide association signals of low specificity for major depression.” Nature Genetics 52(4):437-447 (2020)
Allele T
OR 0.01
p 2.0e-9
N 274,107
Large GWAS
European

About PTCH1

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

View all PTCH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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