rs3804984
This variant is located in the ITPR1 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.
Uterine leiomyoma
Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)
Allele T
OR 1.06
p 2.0e-13
N 295,291
Large GWAS
European
Sliz E et al. “Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.” Nature Communications 14(1):542 (2023)
Allele T
OR 1.06
p 5.0e-13
N 367,903
Large GWAS
European
uterine fibroid
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.06
p 2.0e-11
N 338,926
Large GWAS
multi-ancestry
Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)
Allele T
OR 0.06
p 9.0e-9
N 253,542
Meta-analysisLarge GWAS
East Asian, Central Asian, South Asian
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout ITPR1
This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
View all ITPR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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