Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918647
rs121918647
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C0520739
Disease:
Hereditary pyropoikilocytosis
C 0.700 CausalMutation CLINVAR