Variant: rs587777483 

    present in Gene: PHGDH;LOC105378936
    present in Chromosome: 1
    Position on Chromosome: 119727080
    Alleles of this Variant: G/A

rs587777483 in PHGDH;LOC105378936 gene and NEU-LAXOVA SYNDROME 1 PMID 24836451 2014 Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.