rs1247942

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GWAS Catalog Trait Associations (2)

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

Barrett's esophagus

Ong JS et al. “Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett's oesophagus and provides insights into clinical heterogeneity in reflux diagnosis.” Gut 71(6):1053-1061 (2022)

Allele G

OR —

β 0.099

p 1.0e-10

N 56,429

Large GWAS

European

esophageal adenocarcinoma, Barrett's esophagus

Gharahkhani P et al. “Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis.” The Lancet. Oncology 17(10):1363-1373 (2016)

Allele G

OR 1.12

p 2.0e-9

N 27,438

Meta-analysisLarge GWAS

European

Schröder J et al. “GWAS meta-analysis of 16 790 patients with Barrett's oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease aetiology beyond the single marker level.” Gut 72(4):612-623 (2023)

Allele G

OR 0.09

p 4.0e-9

N 49,266

Meta-analysisLarge GWAS

European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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