rs8007643

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GWAS Catalog Trait Associations (1)

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

nose morphology trait

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 1.06
p 3.0e-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

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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