rs2276910

This variant is located in the SMARCAD1 gene.

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GWAS Catalog Trait Associations (2)

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

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele T
OR 8.24
p 2.0e-16
N 33,748
Large GWAS
European
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele T
OR —
p 1.0e-13
N 35,657
Large GWAS
European

JT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele T
OR 0.02
p 6.0e-12
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About SMARCAD1

This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all SMARCAD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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