rs6668
This is a regulatory region variant variant in the HOTAIRM1 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.
tonsillectomy risk measurement
▶Research that mentions this SNP (1)
▶Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfootAssociationN=1,927Audrey R. Ester et al.(2009)· American Journal of Medical Genetics Part A
Family-based association study identifying altered transmission of SNPs in HOX gene clusters (HOXA, HOXD) and IGFBP3 as potential risk factors for clubfoot (talipes equinovarus), a common congenital limb defect. Key findings include significant associations with rs3801776 in HOXA (p=0.004 discovery, p=0.028 validation), rs13223993 in IGFBP3 (p=0.003), and strong gene-gene interactions between HOX and apoptotic pathway genes (CASP3, CASP10, Bid, Apaf1), suggesting HOX and apoptotic perturbations affect limb and muscle development.
About HOTAIRM1
This non-coding locus is located in the HOX gene cluster. Transcription of this locus is induced by retinoic acid, and transcripts likely function in regulation of myelopoiesis through transcriptional activation of several genes in the HOXA cluster, in addition to several beta-2 integrins. [provided by RefSeq, Jan 2013]
View all HOTAIRM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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