rs78444298
This variant is located in the EDEM3 gene.
▶GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
blood protein amount
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 0.37
p 1.0e-78
N 47,745
Large GWAS
European
glomerular filtration rate
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele A
OR 0.01
p 7.0e-43
N 1,201,930
Large GWAS
multi-ancestry
Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele A
OR 13.29
p 3.0e-40
N 1,508,659
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele A
OR 0.01
p 5.0e-24
N 765,348
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 A
OR 0.10
p 1.0e-13
N 571,227
Major Consortium StudyLarge GWAS
multi-ancestry
Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele A
OR —
β 0.049
p 3.0e-11
N 406,504
Large GWAS
European
serum creatinine amount
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 0.07
p 2.0e-35
N 394,642
Large GWAS
European
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 0.09
p 1.0e-31
N 928,679
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 A
OR 0.09
p 3.0e-12
N 602,615
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 0.08
p 1.0e-29
N 494,370
Large GWAS
multi-ancestry
alkaline phosphatase measurement
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.01
p 6.0e-31
N 437,438
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 G
OR 0.08
p 3.0e-23
N 463,178
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 G
OR 0.07
p 5.0e-30
N 394,642
Large GWAS
European
level of 11-beta-hydroxysteroid dehydrogenase 1 in blood
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 0.22
p 5.0e-29
N 47,745
Large GWAS
European
level of tectonic-3 in blood
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 0.16
p 3.0e-22
N 47,745
Large GWAS
European
level of sphingomyelin phosphodiesterase in blood
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 0.16
p 2.0e-20
N 47,745
Large GWAS
European
health trait
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.03
p 2.0e-18
N 405,979
Large GWAS
European
triglyceride measurement
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 0.11
p 2.0e-18
N 391,626
Major Consortium StudyLarge GWAS
European
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 G
OR 0.05
p 6.0e-9
N 928,679
Large GWAS
multi-ancestry
comparative body size at age 10, self-reported
Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele G
OR 0.04
p 2.0e-16
N 453,169
Large GWAS
European
▶ClinVar annotation
About EDEM3
Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
View all EDEM3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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