rs178184
This is a intron variant variant in the NOVA1 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.
self reported educational attainment
▶Research that mentions this SNP (2)
▶Genetic variants in N6-methyladenosine are associated with bladder cancer risk in the Chinese populationAssociationN=387,318Hanting Liu et al.(2021)· Archives of Toxicology
This study identified 402 m6A-associated SNPs in colorectal cancer using genome-wide association study data integrated with expression quantitative trait loci analysis. Three key SNPs were validated: rs178184 in NOVA1 (p=3.41×10⁻¹¹, downregulated), rs35782901 in HTR4 (p=5.56×10⁻⁷, downregulated), and rs60571683 in SLCO1B3 (overexpressed, p=1.09×10⁻⁶ to 7.63×10⁻⁶), suggesting these m6A-SNPs may influence colorectal cancer pathogenesis through altered gene expression.
▶Genetic variants in m6A regulators are associated with gastric cancer riskAssociationN=387,318Xiaowei Wang et al.(2021)· Archives of Toxicology
This integrative genomic study identified 402 m6A-associated SNPs related to colorectal cancer by combining GWAS data with expression quantitative trait loci (eQTL) analysis. Three SNPs showed strong associations with altered gene expression: rs178184 in NOVA1 (p=3.41×10⁻¹¹, downregulated), rs35782901 in HTR4 (p=5.56×10⁻⁷, downregulated), and rs60571683 in SLCO1B3 (p=7.63×10⁻⁶, upregulated in CRC tissues), suggesting these m6A-SNPs may influence colorectal cancer pathogenesis through altered mRNA modification.
About NOVA1
This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
View all NOVA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…