Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192215
rs118192215
KCNQ2
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. 23692823

2013
dbSNP: rs118192215
rs118192215
KCNQ2
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013
dbSNP: rs118192215
rs118192215
KCNQ2
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR Neonatal seizures with tonic clonic sequences and poor developmental outcome. 16039833

2005