rs12526480
This is a intron variant variant in the CARMIL1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
platelet crit
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 1.0e-43
N 394,642
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.03
p 7.0e-19
N 164,339
Large GWAS
European
platelet count
Qayyum R et al. “A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.” Plos Genetics 8(3):e1002491 (2012)
Allele T
OR 4.39
p 9.0e-9
N 16,388
Meta-analysisLarge GWAS
African American or Afro-Caribbean
health trait
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.01
p 2.0e-8
N 405,979
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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