rs16979901
This is a intron variant variant in the CASS4 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
platelet crit
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 0.04
p 7.0e-13
N 164,339
Large GWAS
European
platelet count
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 A
OR 0.03
p 5.0e-17
N 583,459
Major Consortium StudyLarge GWAS
multi-ancestry
Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele A
OR —
p 8.0e-9
N 235,256
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 A
OR 0.04
p 2.0e-12
N 166,066
Large GWAS
European
About CASS4
Enables protein tyrosine kinase binding activity. Involved in several processes, including positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; positive regulation of protein tyrosine kinase activity; and positive regulation of substrate adhesion-dependent cell spreading. Located in cytoplasm and focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]
View all CASS4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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