Disease: Metachondromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918453
rs121918453
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis 		T 0.700 CausalMutation CLINVAR