rs8042919

This is a variant in the TRPM7 gene that changes a threonine to an isoleucine.

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GWAS Catalog Trait Associations (1)

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

acne

Mitchell BL et al. “Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.” Nature Communications 13(1):702 (2022)

Allele A

OR 1.11

p 4.0e-8

N 615,396

Meta-analysisLarge GWAS

European

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ClinVar annotation

Risk Factor★☆☆☆

4 submitters3 publications

Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to; Juvenile amyotrophic lateral sclerosis (JALS); TRPM7-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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SNP variants within the vanilloidTRPV1andTRPV3receptor genes are associated with migraine in the Spanish population

AssociationN=2,077Oriel Carreño et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Case-control genetic association study with replication examining 149 SNPs in 14 TRP channel genes across 1,040 migraine cases and 1,037 controls in a Spanish population. TRPV3 rs7217270 was associated with migraine with aura (MA) and TRPV1 rs222741 with overall migraine in replication. Risk haplotypes in TRPC1, TRPC4, TRPV1, TRPV3, TRPV4, TRPM6, and TRPM8 were identified in the discovery phase (ORs 1.37-2.42) but not replicated.

Traits studied:MigraineMigraine with auraMigraine without aura

PubMed DOI Metascience Observatory

About TRPM7

This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]