Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840812
rs116840812
Entrez Id: 6218
Gene Symbol: RPS17
RPS17
CUI: C2675860
Disease:
Diamond-Blackfan Anemia 4
C 0.700 CausalMutation CLINVAR