Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554297905
rs1554297905
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C1850049
Disease:
Clinodactyly of the 5th finger
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