rs12619842

▶

GWAS Catalog Trait Associations (1)

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

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)

Allele C

OR 0.05

p 6.0e-11

N 250,736

Large GWAS

Matsunaga H et al. “Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease.” Circulation. Genomic and Precision Medicine 13(3):e002670 (2020)

Allele C

OR 1.05

p 3.0e-8

N 392,241

Meta-analysisLarge GWAS

multi-ancestry

▶

Research that mentions this SNP (1)

▶

Identification of polymorphisms in ultraconserved elements associated with clinical outcomes in locally advanced colorectal adenocarcinoma

AssociationN=662Moubin Lin et al.(2012)· Cancer

This study evaluated 48 SNPs within ultraconserved elements in 662 colorectal cancer patients to identify genetic variants associated with clinical outcomes in those receiving fluoropyrimidine-based adjuvant chemotherapy. Eight SNPs were significantly associated with recurrence or survival outcomes when stratified by disease stage. In stage II patients, rs7849 showed consistent increased recurrence risk across training (HR 2.39), validation (HR 3.70), and meta-analysis (HR 2.89). For stage III patients, rs6124509 and rs11195893 showed protective effects (HR 0.38 and 0.26 respectively), while rs10211390 increased recurrence risk (HR 2.70).

Traits studied:Colorectal cancer recurrenceColorectal cancer survivalResponse to fluoropyrimidine-based chemotherapy

PubMed DOI Metascience Observatory

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

rs12619842

GWAS Catalog Trait Associations (1)

coronary artery disease

Research that mentions this SNP (1)

Community Wiki

Comments