rs1321311

▶

GWAS Catalog Trait Associations (3)

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

QT interval

van Duijvenboden S et al. “Genetic Basis and Prognostic Value of Exercise QT Dynamics.” Circulation. Genomic and Precision Medicine 13(4):e002774 (2020)
Allele C
OR 0.04
p 2.0e-13
N 52,861
Large GWAS
European

QRS complex

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)
Allele T
OR 6.52
p 3.0e-10
N 12,670
Large GWAS
European

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele C
OR 0.05
p 5.0e-9
N 718,496
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery
AssociationN=243Hu Y. et al.(2018)· Genes, Chromosomes and Cancer

This study analyzes 243 rectal cancer patients to determine if colorectal cancer (CRC) susceptibility SNPs are associated with rectal cancer prognosis. SNPs on 8q24 (rs6983267 near MYC), 18q21 (rs12953717, rs4464148 in SMAD7), and 20q13 (rs4925386 in LAMA5) are found to be associated with disease-free survival and overall survival in rectal cancer patients, with some alleles associated with better or worse prognosis despite their effects on CRC risk.

Traits studied:Chemoradiotherapy resistanceColorectal cancerDisease-free survivalOverall survivalRectal 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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…