Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141952252
rs141952252
SLC35A3
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		G 0.700 CausalMutation CLINVAR Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 24031089

2013