rs1444754
This variant is located in the KALRN gene.
▶Research that mentions this SNP (1)
▶Kalirin: a novel genetic risk factor for ischemic strokeAssociationN=1,082Tiago Krug et al.(2010)· Human Genetics
Case-control study of 565 Portuguese ischemic stroke patients and 517 controls identifying variants in the KALRN gene region on chromosome 3q13 as risk factors for stroke. Three SNPs showed significant associations: rs4499545 (OR=1.31, P=0.028), rs17286604 (OR=0.70, P=0.010), and rs11712619 (OR=0.74, P=0.030). Genotype imputation identified 32 additional SNPs with P<0.01, with rs11712039 confirmed in a published GWAS. The findings suggest KALRN variants constitute novel genetic risk factors for vascular disease.
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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