rs13067286
This is a intron variant variant in the KALRN gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
platelet volume
Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele A
OR 0.07
p 6.0e-23
N 71,605
Large GWAS
East Asian
immature platelet measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.05
p 2.0e-13
N 36,829
Large GWAS
European
platelet quantity
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.05
p 1.0e-12
N 36,615
Large GWAS
European
immature platelet count
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.05
p 2.0e-12
N 36,618
Large GWAS
European
platelet reactivity efficacy
Verdier H et al. “A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk.” Blood 142(22):1895-1908 (2023)
Allele A
OR 0.05
p 2.0e-11
N 29,806
Large GWAS
European
platelet-to-lymphocyte ratio
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 G
OR —
p 5.0e-9
N 234,552
Large GWAS
European
About KALRN
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]
View all KALRN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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