rs10883451
This is a intron variant variant in the ERLIN1 gene.
▶GWAS Catalog Trait Associations (56)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (56)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum alanine aminotransferase amount
Vujkovic M et al. “A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.” Nature Genetics 54(6):761-771 (2022)
Allele C
OR 0.15
p 3.0e-112
N 218,595
Large GWAS
multi-ancestry
aspartate aminotransferase to alanine aminotransferase ratio
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 0.06
p 1.0e-109
N 389,192
Major Consortium StudyLarge GWAS
European
triglycerides in large HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-31
N 450,015
Large GWAS
multi-ancestry
apolipoprotein A 1 measurement
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele T
OR 0.02
p 2.0e-29
N 393,193
Large GWAS
European
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 7.0e-24
N 450,015
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 T
OR 0.02
p 6.0e-28
N 394,642
Large GWAS
European
level of phosphatidylcholine
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-26
N 450,015
Large GWAS
multi-ancestry
triglycerides in medium HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-26
N 450,015
Large GWAS
multi-ancestry
triglycerides in HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-25
N 450,015
Large GWAS
multi-ancestry
phosphoglycerides measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-25
N 450,015
Large GWAS
multi-ancestry
free cholesterol in small HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 6.0e-25
N 450,015
Large GWAS
multi-ancestry
phospholipids in medium HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-23
N 450,015
Large GWAS
multi-ancestry
About ERLIN1
The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
View all ERLIN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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