rs12928404
This is a splice region variant variant in the ATXN2L gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
testosterone measurement
Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele C
OR 0.03
p 7.0e-27
N 243,951
Large GWAS
European, South Asian
grip strength measurement
Tikkanen E et al. “Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank.” Scientific Reports 8(1):6451 (2018)
Allele C
OR 0.00
p 1.0e-25
N 223,215
Major Consortium StudyLarge GWAS
European
forced expiratory volume
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele T
OR 7.51
p 6.0e-14
N 588,452
Large GWAS
multi-ancestry
intelligence
Coleman JRI et al. “Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.” Molecular Psychiatry 24(2):182-197 (2019)
Allele T
OR 5.59
p 2.0e-8
N 87,740
Meta-analysisLarge GWAS
European
Sniekers S et al. “Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence.” Nature Genetics 49(7):1107-1112 (2017)
Allele T
OR 5.48
p 4.0e-8
N 78,308
Meta-analysisLarge GWAS
European
About ATXN2L
This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all ATXN2L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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