rs72839768

This variant is located in the DVL2 gene.

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GWAS Catalog Trait Associations (6)

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

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 10.21
p 2.0e-24
N 33,748
Large GWAS
European

aspartate aminotransferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 1.0e-13
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry

serum alanine aminotransferase amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 1.0e-13
N 355,729
Major Consortium StudyLarge GWAS
multi-ancestry

glucose tolerance test

Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele A
OR 0.20
p 4.0e-11
N 57,878
Large GWAS
multi-ancestry

serum urea amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.05
p 7.0e-11
N 355,637
Major Consortium StudyLarge GWAS
multi-ancestry

pelvic organ prolapse

Pujol-Gualdo N et al. “Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.” Nature Communications 13(1):3584 (2022)
Allele A
OR 1.19
p 5.0e-9
N 574,377
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

DVL2-related disorder

View on ClinVar →

About DVL2

This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]

View all DVL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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