Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918464
rs121918464
PTPN11
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation BEFREE The E76K GOF mutation is the most common and active SHP2 mutation; however, the pathogenic effects and function of this mutation in CRC tumor progression have not been well characterized. 29323748

2018