Disease: Neurofibromatosis 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.010 GeneticVariation BEFREE LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 21365175 2011