rs2281845
This is a upstream gene variant variant in the CACNA1S 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.
tooth eruption
Geller F et al. “Genome-wide association study identifies four loci associated with eruption of permanent teeth.” Plos Genetics 7(9):e1002275 (2011)
Allele T
OR 0.10
p 8.0e-17
N 5,088
Large GWAS
European
▶ClinVar annotation
Risk Factor★★★☆
3 submitters2 publicationsThyrotoxic periodic paralysis, susceptibility to, 1 (TTPP1)
View on ClinVar →About CACNA1S
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
View all CACNA1S variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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