Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784440
rs587784440
SPTAN1
CUI: C0036572
Disease: Seizures
Seizures 		GGGACCAGCT 0.700 CausalMutation CLINVAR SPTAN1 encephalopathy: distinct phenotypes and genotypes. 25631096

2015
dbSNP: rs587784440
rs587784440
SPTAN1
CUI: C0036572
Disease: Seizures
Seizures 		GGGACCAGCT 0.700 CausalMutation CLINVAR Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320

2013