Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037931
rs886037931
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
A 0.700 CausalMutation CLINVAR Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360

2017