rs113958504
This variant is located in the CHD7 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
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 T
OR 9.54
p 1.0e-21
N 33,748
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationHypogonadotropic hypogonadism 5 with or without anosmia; not provided
View on ClinVar →About CHD7
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
View all CHD7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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