Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907158
rs387907158
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR