rs57800857
This variant is located in the MAML3 gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body mass index
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.02
p 3.0e-15
N 806,834
Meta-analysisLarge GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.02
p 6.0e-15
N 694,649
Large GWAS
European
Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele A
OR 0.02
p 6.0e-14
N 441,761
Large GWAS
European
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 0.01
p 4.0e-15
N 394,642
Large GWAS
European
fat pad mass
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 1.0e-13
N 394,642
Large GWAS
European
total lipids in large HDL
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 0.01
p 3.0e-12
N 450,015
Large GWAS
multi-ancestry
waist circumference
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 5.0e-12
N 394,642
Large GWAS
European
cholesteryl ester 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 0.01
p 6.0e-12
N 450,015
Large GWAS
multi-ancestry
aspartate aminotransferase measurement, low density lipoprotein triglyceride measurement, serum alanine aminotransferase amount, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele A
OR —
p 7.0e-12
N 389,354
Large GWAS
European
cholesterol in very 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 0.01
p 9.0e-12
N 450,015
Large GWAS
multi-ancestry
cholesterol to total lipids in large HDL percentage
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 0.01
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry
cholesteryl esters to total lipids in large HDL percentage
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 0.01
p 4.0e-11
N 450,015
Large GWAS
multi-ancestry
gait quality
Timmins IR et al. “Genome-wide association study of self-reported walking pace suggests beneficial effects of brisk walking on health and survival.” Communications Biology 3(1):634 (2020)
Allele A
OR 0.01
p 6.0e-11
N 450,967
Large GWAS
European
About MAML3
Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
View all MAML3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…