CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Severe global developmental delay ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C1837397
Disease:
Severe global developmental delay 		A 0.700 CausalMutation CLINVAR