Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519444
rs1057519444
SYN3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		AA 0.700 CausalMutation CLINVAR

dbSNP: rs1057519444
rs1057519444
SYN3
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		AA 0.700 CausalMutation CLINVAR

dbSNP: rs1057519444
rs1057519444
SYN3
CUI: C0036572
Disease: Seizures
Seizures 		AA 0.700 CausalMutation CLINVAR

dbSNP: rs1057519444
rs1057519444
SYN3
CUI: C0042798
Disease: Low Vision
Low Vision 		AA 0.700 CausalMutation CLINVAR

dbSNP: rs1057519444
rs1057519444
SYN3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		AA 0.700 CausalMutation CLINVAR