rs35529250
This is a variant in the RBM47 gene that changes a glycine to an arginine.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
blood urea nitrogen amount
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.13
p 8.0e-18
N 492,819
Large GWAS
multi-ancestry
serum urea amount
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.13
p 4.0e-17
N 355,637
Major Consortium StudyLarge 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 0.10
p 8.0e-17
N 394,642
Large GWAS
European
serum creatinine amount
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.11
p 9.0e-16
N 928,679
Large GWAS
multi-ancestry
glomerular filtration rate
Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele T
OR 0.09
p 2.0e-12
N 406,504
Large GWAS
European
systolic blood pressure
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele T
OR 1.55
p 2.0e-8
N 192,763
Large GWAS
multi-ancestry
▶ClinVar annotation
Likely benign
About RBM47
Enables enzyme binding activity; enzyme-substrate adaptor activity; and mRNA 3'-UTR binding activity. Involved in cytidine to uridine editing; positive regulation of type I interferon-mediated signaling pathway; and regulation of mRNA metabolic process. Located in cytoplasm and nucleus. Part of apolipoprotein B mRNA editing enzyme complex. [provided by Alliance of Genome Resources, Jul 2025]
View all RBM47 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…