Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565244847
rs1565244847
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C3151211
Disease:
OSTEOGENESIS IMPERFECTA, TYPE X
GT 0.700 CausalMutation CLINVAR