rs222857

This variant is located in the CLDN7 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

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele T
OR 0.03
p 1.0e-24
N 321,223
Large GWAS
multi-ancestry

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.17
p 2.0e-15
N 526,001
Large GWAS
European

About CLDN7

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]

View all CLDN7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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