Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918459
rs121918459
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0013336
Disease:
Dwarfism
0.010 GeneticVariation BEFREE A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234 2006