Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745410279
rs745410279
CUI: C0028326
Disease: Noonan Syndrome
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