rs145965565

This is a regulatory region variant variant in the PTCH1 gene.

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GWAS Catalog Trait Associations (6)

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

nose morphology trait

White JD et al. “Insights into the genetic architecture of the human face.” Nature Genetics 53(1):45-53 (2021)
Allele G
OR —
p 1.0e-14
N 4,680
Large GWAS
European

brain connectivity attribute

Sha Z et al. “Genetic architecture of the white matter connectome of the human brain.” Science Advances 9(7):eadd2870 (2023)
Allele T
OR 7.51
p 6.0e-14
N 30,810
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.03
p 8.0e-13
N 219,872
Major Consortium StudyLarge GWAS
European

feeling emotionally hurt measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele T
OR 6.66
p 3.0e-11
N 372,047
Large GWAS
European

anxiety measurement

Tesfaye M et al. “Identification of novel genomic loci for anxiety symptoms and extensive genetic overlap with psychiatric disorders.” Psychiatry and Clinical Neurosciences 78(12):783-791 (2024)
Allele T
OR 0.03
p 9.0e-9
N 301,732
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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