rs17165041
This variant is located in the MEGF10 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Parkinson disease loci in the mid-western AmishAssociationN=798Davis MF et al.(2013)· Human Genetics
Genome-wide association and linkage analysis in an Amish founder population (798 genotyped individuals, 31 with Parkinson disease) identified multiple susceptibility loci, with the strongest associations at chromosome 5q31.3 (MEGF10, MQLS p=5.50×10⁻⁷), chromosome 11q21 (CCDC82, p=2.16×10⁻⁷), and chromosome 15q25.1 (TMC3, p=2.31×10⁻⁷), and significant linkage evidence on chromosomes 5 (multipoint HLOD=3.77), 6 (HLOD=4.02), and 10 (HLOD=4.35). The study suggests extensive locus heterogeneity in Parkinson disease susceptibility.
About MEGF10
This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
View all MEGF10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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