Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368924997
rs368924997
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
CUI: C3553538
Disease:
BROWN-VIALETTO-VAN LAERE SYNDROME 2
A 0.700 CausalMutation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200 2014