Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113461014
rs113461014
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
CUI: C0028326
Disease:
Noonan Syndrome 		0.010 GeneticVariation BEFREE Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome. 22419608 2012