rs12787996

This variant is located in the YAP1 gene.

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GWAS Catalog Trait Associations (2)

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

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele C
OR 0.01
p 2.0e-12
N 188,908
Large GWAS
European
Haas CB et al. “Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women.” Endocrinology 163(4) (2022)
Allele C
OR 0.02
p 7.0e-9
N 196,901
Large GWAS
European

migraine disorder

Choquet H et al. “New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis.” Communications Biology 4(1):864 (2021)
Allele A
OR 1.04
p 2.0e-11
N 889,018
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About YAP1

This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]

View all YAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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