rs10512249

This is a upstream gene variant variant in the PTCH1 gene.

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GWAS Catalog Trait Associations (3)

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

birth weight

Plotnikov D et al. “Association between birth weight and refractive error in adulthood: a Mendelian randomisation study.” The British Journal of Ophthalmology 104(2):214-219 (2020)
Allele A
OR 0.04
p 2.0e-15
N 188,039
Large GWAS
European

neuroticism measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele A
OR 0.02
p 4.0e-13
N 523,783
Large GWAS
European

depressive symptom measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele A
OR 0.01
p 6.0e-13
N 1,067,913
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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