rs4944957

This is a upstream gene variant variant in the NADSYN1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

vitamin deficiency disorder

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 6.0e-26
N 577,973
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association between variants in vitamin D‐binding protein gene and vitamin D deficiency among pregnant women in china
AssociationN=815Jinju Dong et al.(2020)· Journal of Clinical Laboratory Analysis

This case-control association study of 815 Chinese pregnant women identified five SNPs in the GC (vitamin D-binding protein) gene significantly associated with serum 25-hydroxyvitamin D concentration: rs17467825, rs4588, rs2282679, rs2298850, and rs1155563. Mean 25(OH)D level was 15.67±7.98 ng/mL with 75% prevalence of deficiency. An XGBoost model incorporating these SNPs plus environmental factors achieved AUC 0.828 for predicting 25(OH)D deficiency risk. The study suggests maternal vitamin D deficiency may increase macrosomia risk (12 of 16 macrosomic infants had deficient mothers).

Traits studied:25-hydroxyvitamin D concentrationMacrosomiaVitamin D deficiency
PubMedDOIMetascience Observatory

About NADSYN1

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]

View all NADSYN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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