rs13238550
This is a regulatory region variant variant in the MKLN1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
systolic blood pressure
Warren HR et al. “Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.” Nature Genetics 49(3):403-415 (2017)
Allele A
OR 0.33
p 2.0e-12
N 140,882
Large GWAS
European
About MKLN1
Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
View all MKLN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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