Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906881
rs387906881
GOSR2 ; LRRC37A2
0.800 GeneticVariation UNIPROT A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339

2011
dbSNP: rs387906881
rs387906881
GOSR2 ; LRRC37A2
T 0.800 CausalMutation CLINVAR

dbSNP: rs141554661
rs141554661
GOSR2 ; LRRC37A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs863223401
rs863223401
GOSR2 ; LRRC37A2
C 0.700 CausalMutation CLINVAR