Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777057
rs587777057
GNAO1
0.020 GeneticVariation BEFREE Here we develop a mouse model carrying a human GNAO1 mutation (G203R) and determine whether the clinical features of patients with this GNAO1 mutation, which includes both epilepsy and movement disorder, would be evident in the mouse model. 30682176

2019
dbSNP: rs587777057
rs587777057
GNAO1
0.020 GeneticVariation BEFREE GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. 28202424

2017