rs16949788
This is a upstream gene variant variant in the DIS3L 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.
refractive error, self reported educational attainment
▶Research that mentions this SNP (1)
▶Genetic variants in Ras/Raf/MEK/ERK pathway are associated with gastric cancer risk in Chinese Han populationAssociationN=3,725Xiaowei Wang et al.(2020)· Archives of Toxicology
Pathway-based GWAS in 1625 Chinese Han gastric cancer cases and 2100 controls identified three SNPs in MAP2K1 significantly associated with gastric cancer risk: rs4287513 (OR=1.30, P=1.92×10⁻³), rs76906202 (OR=0.87, P=3.72×10⁻³, protective), and rs11631448 (OR=1.21, P=6.74×10⁻³). eQTL analysis confirmed these variants regulate MAP2K1 expression, and low MAP2K1 expression was associated with poor survival in gastric cancer patients.
About DIS3L
The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]
View all DIS3L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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