rs2727261
This variant is located in the RAB3IL1 gene.
▶GWAS Catalog Trait Associations (20)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (20)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
docosahexaenoic acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 1.0e-160
N 239,268
Large GWAS
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 C
OR 0.30
p 1.0e-17
N 4,492
Large GWAS
European
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 C
OR 0.16
p 1.0e-10
N 13,814
Large GWAS
European
lysophosphatidylcholine 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 0.16
p 4.0e-17
N 13,814
Large GWAS
European
level of Phosphatidylcholine (18:0_20:4) in blood serum
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.35
p 1.0e-16
N 2,624
Large GWAS
European
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 0.12
p 8.0e-16
N 13,814
Large GWAS
European
saturated fatty acids measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 3.0e-13
N 128,922
Large GWAS
European
level of phosphatidylinositol
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 C
OR 0.25
p 1.0e-12
N 4,492
Large GWAS
European
lysophosphatidylcholine 20:2 measurement
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 C
OR 0.25
p 2.0e-12
N 4,492
Large GWAS
European
phosphatidylcholine 38:2 measurement
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 C
OR 0.24
p 1.0e-11
N 4,492
Large GWAS
European
level of Phosphatidylcholine (17:0_20:4) in blood serum
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.28
p 4.0e-11
N 2,624
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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