rs540781594

This variant is located in the SHANK1 gene.

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GWAS Catalog Trait Associations (1)

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

C-type lectin domain family 11 member A level

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele T

OR 1.16

p 6.0e-49

N 3,301

Large GWAS

European

About SHANK1

This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]

View all SHANK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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