rs7722513
This is a intron variant variant in the PITX1-AS1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
colorectal cancer
Lu Y et al. “Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 29(2):477-486 (2020)
Allele C
OR 1.15
p 9.0e-20
N 72,272
Large GWAS
multi-ancestry
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 C
OR 0.86
p 1.0e-13
N 202,807
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.16
p 3.0e-17
N 167,691
Large GWAS
East Asian
Sato G et al. “Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.” Nature Communications 14(1):3671 (2023)
Allele C
OR 0.87
p 5.0e-11
N 156,537
Large GWAS
East Asian
polyp of colon
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.06
p 7.0e-10
N 525,237
Large GWAS
multi-ancestry
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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