Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. 26286251

2015
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE Patients with a p.Thr73Ile mutation also had more chances of developing MPD/JMML but with a milder clinical course. 25097206

2014
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE A definitive genotype-phenotype correlation has not been established, but the T73I mutation seems to predispose to a myeloproliferative disorder. 17020470

2006
dbSNP: rs121918462
rs121918462
PTPN11
0.040 GeneticVariation BEFREE Eight of 19 patients with NS/MPD carried the Thr73Ile substitution. 15928039

2005