Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200024180
rs200024180
GDF1 ; CERS1
0.800 GeneticVariation UNIPROT Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. 24782409

2014
dbSNP: rs200024180
rs200024180
GDF1 ; CERS1
C 0.800 CausalMutation CLINVAR

dbSNP: rs561672108
rs561672108
GDF1 ; CERS1
A 0.700 CausalMutation CLINVAR