rs619686

This is a downstream gene variant variant in the GSTM2 gene.

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GWAS Catalog Trait Associations (1)

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

eye 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 G
OR 0.76
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 GSTM2

Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]

View all GSTM2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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