Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203995
rs118203995
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib
T 0.700 CausalMutation CLINVAR