Disease: Specific granule deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518733
rs1057518733
Entrez Id: 6603
Gene Symbol: SMARCD2
SMARCD2
CUI: C0398593
Disease:
Specific granule deficiency 		G 0.700 CausalMutation CLINVAR