rs1046276
This is a regulatory region variant variant in the CTF1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
juvenile myoclonic epilepsy
“Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.” Nature Communications 9(1):5269 (2018)
Allele T
OR 6.67
p 3.0e-11
N 5,395
Large GWAS
European
“GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.” Nature Genetics 55(9):1471-1482 (2023)
Allele T
OR —
p 6.0e-10
N 44,168
Meta-analysisLarge GWAS
European
erythrocyte count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.02
p 2.0e-9
N 172,952
Large GWAS
European
About CTF1
The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
View all CTF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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