rs6066825

This is a regulatory region variant variant in the PREX1 gene.

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GWAS Catalog Trait Associations (5)

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

colorectal cancer

Fernandez-Rozadilla C et al. “Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.” Nature Genetics 55(1):89-99 (2023)
Allele G
OR 0.08
p 2.0e-32
N 254,791
Large GWAS
multi-ancestry
Tian J et al. “Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies.” Genome Medicine 16(1):81 (2024)
Allele G
OR —
β 0.074
p 3.0e-18
N 839,703
Large GWAS
multi-ancestry
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 0.09
p 3.0e-13
N 637,693
Large GWAS
multi-ancestry
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 G
OR 0.91
p 3.0e-8
N 341,537
Large GWAS
European
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele G
OR 0.13
p 5.0e-9
N 315,260
Large GWAS
European
Law PJ et al. “Association analyses identify 31 new risk loci for colorectal cancer susceptibility.” Nature Communications 10(1):2154 (2019)
Allele G
OR 1.10
p 4.0e-17
N 92,967
Large GWAS
European
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 G
OR 1.10
p 8.0e-12
N 72,272
Large GWAS
multi-ancestry
Laskar RS et al. “Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.” Annals of Oncology : Official Journal of the European Society for Medical Oncology 35(6):523-536 (2024)
Allele G
OR 0.87
p 7.0e-11
N 72,005
Large GWAS
European
Lu Y et al. “Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.” Gastroenterology 156(5):1455-1466 (2019)
Allele G
OR 1.10
p 4.0e-11
N 70,506
Large GWAS
East Asian
Schumacher FR et al. “Genome-wide association study of colorectal cancer identifies six new susceptibility loci.” Nature Communications 6:7138 (2015)
Allele G
OR 1.09
p 4.0e-9
N 37,955
Large GWAS
multi-ancestry

colorectal cancer, colorectal adenoma

Huyghe JR et al. “Discovery of common and rare genetic risk variants for colorectal cancer.” Nature Genetics 51(1):76-87 (2019)
Allele A
OR 1.07
p 6.0e-15
N 125,478
Large GWAS
multi-ancestry

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 4.0e-10
N 525,237
Large GWAS
multi-ancestry

otosclerosis

Rämö JT et al. “Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.” Nature Communications 14(1):157 (2023)
Allele G
OR 1.16
p 1.0e-8
N 864,702
Large GWAS
European

About PREX1

The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]

View all PREX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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