rs1052536

This is a downstream gene variant variant in the LIG3 gene.

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GWAS Catalog Trait Associations (1)

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

QT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele T
OR 0.05
p 4.0e-56
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
Arking DE et al. “Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.” Nature Genetics 46(8):826-36 (2014)
Allele T
OR 0.98
p 6.0e-25
N 71,061
Large GWAS
European
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Research that mentions this SNP (2)

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Identification of miRSNPs associated with the risk of multiple myeloma
AssociationN=4,726Angelica Macauda et al.(2017)· International Journal of Cancer

A genome-wide association study investigating miRNA-binding site SNPs (miRSNPs) in multiple myeloma susceptibility. Among 2,894 MM cases and 1,832 controls from the IMMEnSE consortium, two SNPs showed initial association (rs286595 in MRPL22, rs1419881 in TCF19). Meta-analysis with published GWAS data revealed significant associations for rs13409 (POU5F1, OR=0.92), rs1049623 (DDR1, OR=0.92), rs1049633 (DDR1, OR=0.87), and rs1419881 (TCF19, OR=0.91), all showing decreased MM risk.

Traits studied:Multiple myeloma
PubMedDOIMetascience Observatory
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Genetic variation in the base excision repair pathway and bladder cancer risk
AssociationN=2,299Jonine D. Figueroa et al.(2007)· Human Genetics

Case-control study of 1,150 bladder cancer cases and 1,149 controls analyzing 43 SNPs in 12 base excision repair (BER) genes. Significant associations with bladder cancer risk were found for OGG1 rs125701 (OR=0.78, 95% CI 0.63-0.96, decreased risk), PARP1 rs1136410/V762A (OR=1.24, 95% CI 1.02-1.51, increased risk), and POLB rs3136717 (OR=1.30, 95% CI 1.04-1.62, increased risk). Meta-analysis of XRCC1 rs25487 (Q399R) across 7 studies showed no overall association with bladder cancer risk.

Traits studied:Bladder cancerUrinary bladder transitional cell carcinoma
PubMedDOIMetascience Observatory

About LIG3

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

View all LIG3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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