rs4149909

This variant is located in the EXO1 gene.

▶

GWAS Catalog Trait Associations (12)

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

basal cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele G
OR —
p 1.0e-26
N 307,684
Large GWAS
European
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele G
OR 1.13
p 4.0e-9
N 812,765
Meta-analysisLarge GWAS
multi-ancestry
Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele G
OR 1.15
p 1.0e-8
N 651,138
Large GWAS
European

mean corpuscular hemoglobin concentration

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 0.08
p 7.0e-24
N 407,288
Major Consortium StudyLarge GWAS
European

alpha-fetoprotein level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.12
p 4.0e-20
N 47,745
Large GWAS
European

Uterine leiomyoma, breast carcinoma

Wu X et al. “Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis.” American Journal of Human Genetics 109(7):1272-1285 (2022)
Allele A
OR —
p 9.0e-15
N 550,152
Large GWAS
European

lipoma

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 0.21
p 4.0e-12
N 433,641
Major Consortium StudyLarge GWAS
European

eosinophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.04
p 5.0e-12
N 408,112
Large GWAS
European

eosinophil count

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 0.07
p 2.0e-11
N 485,659
Major Consortium StudyLarge 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 A
OR 0.03
p 6.0e-9
N 442,919
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.04
p 1.0e-10
N 408,112
Large GWAS
European

keratinocyte carcinoma

Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele G
OR 1.16
p 2.0e-9
N 358,840
Large GWAS
European

Uterine leiomyoma

Sliz E et al. “Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.” Nature Communications 14(1):542 (2023)
Allele A
OR 0.87
p 1.0e-8
N 367,903
Large GWAS
European
▶

ClinVar annotation

Benign
1 submitter

EXO1-related disorder

View on ClinVar →

About EXO1

This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]

View all EXO1 variants →

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…