rs12593813

This is a intron variant variant in the MAP2K5 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

restless legs syndrome

Winkelmann J et al. “Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.” Plos Genetics 7(7):e1002171 (2011)
Allele G
OR 1.41
p 1.0e-22
N 2,448
Large GWAS
European
Winkelmann J et al. “Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.” Nature Genetics 39(8):1000-6 (2007)
Allele G
OR 1.50
p 1.0e-15
N 2,045
Large GWAS
European
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Research that mentions this SNP (1)

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The effects of aMAP2K5microRNA target site SNP on risk for anxiety and depressive disorders
AssociationN=6,725Kevin P. Jensen et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study identified rs41305272, a predicted miR-330-3p target site SNP in MAP2K5, as associated with anxiety and depressive disorders in 6,725 European-American and African-American subjects. The T-allele was significantly associated with agoraphobia (OR=2.22, p=0.0004 combined sample), panic disorder (OR=1.95, p=0.002), and major depressive disorder (OR=1.48, p=0.01). The rs41305272 SNP is in linkage disequilibrium with a restless legs syndrome GWAS variant and showed pathway enrichment for nervous system development genes.

Traits studied:AgoraphobiaGeneralized Anxiety DisorderMajor Depressive DisorderObsessive-Compulsive DisorderPanic DisorderPost-Traumatic Stress DisorderRestless Legs SyndromeSocial Phobia
PubMedDOIMetascience Observatory

About MAP2K5

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]

View all MAP2K5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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