rs2673065

This is a intron variant variant in the SACM1L gene.

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GWAS Catalog Trait Associations (1)

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

COVID-19

Diz-de Almeida S et al. “Novel risk loci for COVID-19 hospitalization among admixed American populations.” Elife 13 (2024)

Allele T

OR 0.05

p 5.0e-9

N 73,303

Large GWAS

multi-ancestry

About SACM1L

This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]

View all SACM1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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