Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150299874
rs150299874
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0750937
Disease:
Ataxia, Appendicular
T 0.700 CausalMutation CLINVAR