Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201247699
rs201247699
0.010 GeneticVariation BEFREE The mother and the brother present with some NS manifestations, such as short stature, delayed puberty, keratosis pilaris, café-au-lait spots, refraction error (mother), and undescended testis (brother), but no NS facial features, supporting the notion that the PTPN11 p.Gly409Ala mutation leads to a relatively mild phenotype. 21548061

2011