rs182549
This is a intron variant variant in the MCM6 gene.
▶GWAS Catalog Trait Associations (16)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (16)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Polymorphism in the protease‐activated receptor‐4 gene region associates with platelet activation and perioperative myocardial injuryAssociationN=934Jochen D. Muehlschlegel et al.(2012)· American Journal of Hematology
A genetic association study identified SNP rs773857 in the F2RL3 gene region as associated with perioperative myocardial injury (PMI) in 934 CABG surgery patients (OR 2.4, p=0.004). Risk allele homozygotes showed increased platelet counts and enhanced P-selectin release upon PAR4 activation, indicating increased platelet reactivity and α-granule degranulation.
▶Variability in Ethanol Biodisposition in Whites Is Modulated by Polymorphisms in the Adh1b and Adh1c GenesReviewCarmen Martínez et al.(2010)· Hepatology
A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.
About MCM6
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
View all MCM6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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