Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs562015640
rs562015640
PTEN
0.020 GeneticVariation BEFREE Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN). 27840422

2017
dbSNP: rs562015640
rs562015640
PTEN
0.020 GeneticVariation BEFREE Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias. 21930766

2011