rs80142782

This is a intron variant variant in the ASH1L gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

gastric carcinoma

Wang Z et al. “Identification of new susceptibility loci for gastric non-cardia adenocarcinoma: pooled results from two Chinese genome-wide association studies.” Gut 66(4):581-587 (2017)

Allele T

OR 1.61

p 2.0e-19

N 7,001

Large GWAS

East Asian

hemoglobin measurement

Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)

Allele C

OR —

β 0.064

p 2.0e-8

N 18,685

Large GWAS

East Asian

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Research that mentions this SNP (1)

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Predictive model for risk of gastric cancer using genetic variants from genome‐wide association studies and high‐evidence meta‐analysis

AssociationN=2,287Lixin Qiu et al.(2020)· Cancer Medicine

This case-control study of 1,115 gastric cancer cases and 1,172 Eastern Chinese controls identified six SNPs (rs13361707, rs2294008, rs4072037, rs3762272, rs2274223, rs80142782) associated with increased gastric cancer risk with ORs ranging from 1.19–1.47. A predictive model combining these genetic variants with BMI achieved an AUC of 0.684 compared to 0.653 for BMI alone, and revealed a gene-environment interaction between low BMI and genetic risk variants.

Traits studied:Gastric cancer

PubMed DOI Metascience Observatory

About ASH1L

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]