Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554297905
rs1554297905
RALA
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825

2018