rs2521572
This is a intergenic variant variant in the RAB3IL1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lysophosphatidylethanolamine measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.15
p 8.0e-11
N 13,814
Large GWAS
European
docosapentaenoic acid measurement
Lemaitre RN et al. “Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.” Plos Genetics 7(7):e1002193 (2011)
Allele T
OR —
β 0.050
p 2.0e-9
N 8,866
Meta-analysisMajor Consortium Study
European
level of phosphatidylcholine
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele G
OR 0.29
p 2.0e-8
N 4,492
Large GWAS
European
level of phosphatidylethanolamine
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele G
OR 0.39
p 5.0e-14
N 4,492
Large GWAS
European
About RAB3IL1
This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]
View all RAB3IL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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