Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192200
rs118192200
KCNQ2
T 0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
dbSNP: rs118192200
rs118192200
KCNQ2
T 0.700 CausalMutation CLINVAR Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. 17872363

2007