Disease: 22q13.3 Deletion Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1396379503
rs1396379503
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease:
22q13.3 Deletion Syndrome 		A 0.700 CausalMutation CLINVAR