Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853283
rs878853283
FRRS1L
CUI: C0036572
Disease: Seizures
Seizures 		AT 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016