Disease: Aplasia/hypoplasia of the extremities ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555222973
rs1555222973
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C4551464
Disease:
Aplasia/hypoplasia of the extremities 		T 0.700 CausalMutation CLINVAR