Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918464
rs121918464
PTPN11
0.030 GeneticVariation BEFREE The gain-of-function mutation E76K in SHP2 promotes CAC tumorigenesis and induces EMT via the Wnt/β-catenin signaling pathway. 29323748

2018
dbSNP: rs121918464
rs121918464
PTPN11
0.030 GeneticVariation BEFREE Whereas, deleterious variants, especially PTPN11 c.226G>A, may be linked to tumorigenesis of AS. 29206716

2018
dbSNP: rs121918464
rs121918464
PTPN11
0.030 GeneticVariation BEFREE We generated transgenic mice containing a doxycycline (Dox)-inducible activating SHP2 mutant (tetO-SHP2(E76K)) and analyzed the role of SHP2(E76K) in lung tumorigenesis in the Clara cell secretory protein (CCSP)-reverse tetracycline transactivator (rtTA)/tetO-SHP2(E76K) bitransgenic mice. 24480804

2014