Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs945564833
rs945564833
SORBS1
0.010 GeneticVariation BEFREE A novel compound heterozygous mutation of the STAMBP (c.1119‑1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases. 31638258

2019