Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507548
rs397507548
PTPN11
0.010 GeneticVariation BEFREE We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. 22528600

2012