rs74444983
This variant is located in the EXOC3L2 gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
leukocyte quantity
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 T
OR 0.05
p 4.0e-47
N 381,099
Major Consortium StudyLarge GWAS
European
reticulocyte count
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 3.0e-21
N 394,642
Large GWAS
European
reticulocyte amount
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 2.0e-18
N 394,642
Large GWAS
European
total blood protein measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 3.0e-17
N 394,642
Large GWAS
European
body composition measurement
Wu Z et al. “Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.” Nature Communications 16(1):7490 (2025)
Allele C
OR 0.07
p 1.0e-16
N 39,030
Large GWAS
European
erythropoietin level
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 5.0e-13
N 47,745
Large GWAS
European
parental longevity
Pilling LC et al. “Human longevity: 25 genetic loci associated in 389,166 UK biobank participants.” Aging 9(12):2504-2520 (2017)
Allele T
OR 0.01
p 9.0e-9
N 415,311
Major Consortium StudyLarge GWAS
European
body mass index
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.02
p 2.0e-8
N 342,566
Large GWAS
European
monocyte 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 T
OR 0.04
p 7.0e-18
N 429,585
Major Consortium StudyLarge GWAS
multi-ancestry
neutrophil 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 T
OR 0.03
p 5.0e-17
N 388,313
Major Consortium StudyLarge GWAS
multi-ancestry
About EXOC3L2
The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]
View all EXOC3L2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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