rs6939340
This is a intron variant variant in the CASC15 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
red blood cell density
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.02
p 1.0e-20
N 545,203
Large GWAS
European
neuroblastoma
Maris JM et al. “Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.” The New England Journal of Medicine 358(24):2585-93 (2008)
Allele G
OR 1.37
p 9.0e-15
N 3,075
Large GWAS
European
mean arterial pressure
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 2.0e-9
N 506,365
Large GWAS
multi-ancestry
About CASC15
This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatocellular carcinoma, where it is thought to function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017]
View all CASC15 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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