rs12786942

This is a upstream gene variant variant in the TRPC6 gene.

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GWAS Catalog Trait Associations (1)

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

facial depth measurement

Shaffer JR et al. “Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.” Plos Genetics 12(8):e1006149 (2016)
Allele T
OR 1.43
p 5.0e-8
N 2,447
Large GWAS
European
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Research that mentions this SNP (1)

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Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations
AssociationN=3,118Jorge A. Gómez‐Valdés et al.(2013)· American Journal of Human Biology

Genome-wide association meta-analysis of 3,118 healthy individuals of European ancestry identified seven loci associated with normal facial morphology traits. Significant associations were found for cranial base width at 14q21.1 (rs17106852, p=1.01×10⁻⁸) and 20q12 (rs6129564, p=1.65×10⁻⁹), intercanthal width at 1p13.3 and Xq13.2, nasal width at 20p11.22, nasal ala length at 14q11.2, and upper facial depth at 11q22.1. The implicated regions contained genes with known roles in craniofacial development including MAFB, PAX9, MIPOL1, ALX3, HDAC8, and PAX1.

Traits studied:Cranial base widthIntercanthal widthLabial fissure lengthLower facial depthLower facial heightLower lip heightMiddle facial depthMorphological facial heightNasal ala lengthNasal bridge lengthNasal heightNasal protrusionNasal widthOutercanthal widthPalpebral fissure lengthPhiltrum lengthUpper facial depthUpper facial heightUpper lip height
PubMedDOIMetascience Observatory

About TRPC6

The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

View all TRPC6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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