rs704017

This is a regulatory region variant variant in the ZMIZ1-AS1 gene.

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GWAS Catalog Trait Associations (6)

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 0.09

p 2.0e-38

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 0.079

p 3.0e-21

N 839,703

Large GWAS

multi-ancestry

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.10

p 9.0e-12

N 446,766

Major Consortium StudyLarge GWAS

European

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 G

OR 1.12

p 1.0e-9

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 G

OR 0.11

p 2.0e-10

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 G

OR 1.14

p 7.0e-11

N 156,537

Large GWAS

East Asian

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 3.0e-16

N 92,967

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 1.09

p 1.0e-9

N 70,506

Large GWAS

East Asian

Schmit SL et al. “Novel Common Genetic Susceptibility Loci for Colorectal Cancer.” Journal of the National Cancer Institute 111(2):146-157 (2019)

Allele G

OR 1.08

p 2.0e-8

N 67,812

Large GWAS

multi-ancestry

Zeng C et al. “Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.” Gastroenterology 150(7):1633-1645 (2016)

Allele G

OR 1.10

p 2.0e-8

N 21,096

Large GWAS

East Asian

Zhang B et al. “Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.” Nature Genetics 46(6):533-42 (2014)

Allele G

OR 1.10

p 2.0e-8

N 8,270

Large GWAS

multi-ancestry

benign colon neoplasm

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.05

p 9.0e-25

N 395,250

Major Consortium StudyLarge GWAS

European

C-reactive protein measurement

Han X et al. “Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration.” European Journal of Epidemiology 35(2):139-146 (2020)

Allele A

OR 0.02

p 9.0e-19

N 418,642

Large GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele A

OR 0.01

p 2.0e-13

N 575,531

Large GWAS

European

Said S et al. “Genetic analysis of over half a million people characterises C-reactive protein loci.” Nature Communications 13(1):2198 (2022)

Allele A

OR 0.02

p 4.0e-15

N 575,531

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.02

p 4.0e-13

N 436,491

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 4.0e-16

N 394,642

Large GWAS

European

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 G

OR 1.08

p 5.0e-18

N 125,478

Large GWAS

multi-ancestry

serum albumin amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.01

p 2.0e-11

N 928,679

Large GWAS

multi-ancestry

colon carcinoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.11

p 4.0e-12

N 447,221

Major Consortium StudyLarge GWAS

European

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Research that mentions this SNP (2)

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Three functional variants were identified to affect RPS24 expression and significantly associated with risk of colorectal cancer

AssociationN=3,173Danyi Zou et al.(2020)· Archives of Toxicology

Fine-mapping analysis of the GWAS-identified 10q22.3 locus (lead SNP rs704017) identified three functional variants (rs12263636, rs3740253, rs7071351) that affect RPS24 expression and colorectal cancer risk. In a case-control study of 1134 CRC cases and 2039 controls, rs3740253 and rs7071351 were both significantly associated with increased CRC risk (OR=1.15, 95% CI 1.04-1.28, P=0.0079 and P=0.0085 respectively). Functional studies demonstrated that these variants operate through enhancer-promoter interaction to upregulate RPS24 expression.

Traits studied:Colorectal cancer

PubMed DOI Metascience Observatory

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The more from East-Asian, the better: risk prediction of colorectal cancer risk by GWAS-identified SNPs among Japanese

AssociationN=2,768Makiko Abe et al.(2017)· Journal of Cancer Research and Clinical Oncology

This case-control study in Japanese population evaluated CRC risk prediction models using SNPs identified in European and East Asian GWAS. An 11-SNP model combining 6 European-identified SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) with 5 East Asian-identified SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) showed significantly improved discrimination capacity compared to a 6-SNP model alone (derivation AUC 0.6392 vs 0.6125, P=0.0039; replication AUC 0.5695 vs 0.5310, P=0.0018), with cumulative risk at age 80 estimated at 13% in high-risk versus 6% in low-risk genetic groups.

Traits studied:Colorectal cancer

PubMed DOI Metascience Observatory

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

rs704017

GWAS Catalog Trait Associations (6)

colorectal cancer

benign colon neoplasm

C-reactive protein measurement

colorectal cancer, colorectal adenoma

serum albumin amount

colon carcinoma

Research that mentions this SNP (2)

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