rs4536103
This is a variant in the NEUROG3 gene that changes a phenylalanine to an serine.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
promotilin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 7.0e-26
N 47,745
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
7 submitters4 publicationsCongenital malabsorptive diarrhea 4; not specified
View on ClinVar →About NEUROG3
The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
View all NEUROG3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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