rs149359690
This is a intron variant variant in the CARMIL1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
erythrocyte volume
Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)
Allele C
OR —
β 0.690
p —
N 362,595
Large GWAS
European
mean corpuscular hemoglobin concentration
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 0.30
p 9.9e-324
N 583,865
Major Consortium StudyLarge GWAS
multi-ancestry
amount of iron in brain
Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)
Allele C
OR 0.08
p 3.0e-12
N 39,533
Major Consortium StudyLarge GWAS
European
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 5.0e-11
N 239,268
Large GWAS
European
amygdala volume
Mufford MS et al. “The Genetic Architecture of Amygdala Nuclei.” Biological Psychiatry 95(1):72-84 (2024)
Allele T
OR 0.77
p 2.0e-9
N 31,690
Large GWAS
European
About CARMIL1
Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
View all CARMIL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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