Disease: Global developmental delay ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557607997
rs1557607997
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0557874
Disease:
Global developmental delay 		GC 0.700 CausalMutation CLINVAR