rs11667543

This is a regulatory region variant variant in the SH3GL1 gene.

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GWAS Catalog Trait Associations (2)

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

Red cell distribution width

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 7.0e-30
N 548,926
Major Consortium StudyLarge GWAS
multi-ancestry

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele C
OR 0.02
p 1.0e-12
N 438,351
Major Consortium StudyLarge GWAS
European

About SH3GL1

This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

View all SH3GL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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