rs3749147
This is a protein-altering variant in the GPN1 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.
non-alcoholic fatty liver disease
Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele G
OR 0.05
p 2.0e-25
N 122,644
Large GWAS
European
triglyceride measurement
Read RW et al. “Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.” Frontiers in Genetics 12:639418 (2021)
Allele A
OR 6.60
p 4.0e-10
N 9,183
Large GWAS
European
triglyceride measurement, metabolic syndrome
Kraja AT et al. “A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.” Diabetes 60(4):1329-39 (2011)
Allele C
OR 0.18
p 1.0e-9
N 22,161
Major Consortium StudyLarge GWAS
European
platelet count
Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele A
OR 0.04
p 2.0e-9
N 72,816
Large GWAS
East Asian
About GPN1
This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
View all GPN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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