rs3805495

This is a regulatory region variant variant in the TTC33 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

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 0.85
p 9.0e-20
N 202,308
Large GWAS
East Asian

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.13
p 3.0e-8
N 1,164,961
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Evidence for PTGER4,PSCA, and MBOAT7 as risk genes for gastric cancer on the genome and transcriptome level
AssociationN=3,938Sophie K. M. Heinrichs et al.(2018)· Cancer Medicine

This fine-mapping association study in 1926 European gastric cancer (GC) patients and 2012 controls confirmed associations at chromosome 5p13 (rs6872282, P=2.53×10⁻⁴, OR=1.22) and 8q24 (rs2585176, P=1.09×10⁻⁹, OR=1.34) and characterized them through eQTL analysis. The study found cis-eQTL effects for PTGER4 upregulation (5p13, P=9.27×10⁻¹¹) and PSCA upregulation (8q24, P=2.17×10⁻⁴⁷), plus trans-eQTL effects for MBOAT7 downregulation (8q24, P=1.99×10⁻⁹) in GC risk allele carriers.

Traits studied:Gastric cancer
PubMedDOIMetascience Observatory

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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