Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507537
rs397507537
PTPN11
0.010 GeneticVariation BEFREE We report here 2 unrelated Japanese cases of LS with different PTPN11 mutations (p.Y279C and p.T468P). 25917897

2015