rs12137699

This is a intron variant variant in the VANGL1 gene.

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GWAS Catalog Trait Associations (2)

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

optic disc size trait

Han X et al. “Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.” Human Molecular Genetics 28(21):3680-3690 (2019)

Allele T

OR —

β 0.020

p 4.0e-27

N 67,040

Large GWAS

European

gut microbiome measurement

Bonder MJ et al. “The effect of host genetics on the gut microbiome.” Nature Genetics 48(11):1407-1412 (2016)

Allele T

OR 5.47

p 5.0e-8

N 984

Small GWAS

European

About VANGL1

This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

View all VANGL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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