rs11645288

This variant is located in the SALL1 gene.

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GWAS Catalog Trait Associations (2)

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

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)

Allele A

OR 0.01

p 3.0e-10

N 1,216,033

Meta-analysisLarge GWAS

European

goiter

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.20

p 3.0e-9

N 633,436

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

not specified; Townes syndrome; not provided; Townes-Brocks syndrome 1

View on ClinVar →

About SALL1

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]