Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907987
rs121907987
PHGDH
0.800 GeneticVariation UNIPROT Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 19235232

2009
dbSNP: rs121907987
rs121907987
PHGDH
A 0.800 CausalMutation CLINVAR V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. 11751922

2002
dbSNP: rs121907987
rs121907987
PHGDH
0.800 GeneticVariation UNIPROT Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895

2000
dbSNP: rs121907987
rs121907987
PHGDH
A 0.800 CausalMutation CLINVAR Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. 11055895

2000