Disease: Pena-Shokeir syndrome type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1479498379
rs1479498379
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		A 0.700 CausalMutation CLINVAR