Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906631
rs387906631
GATA2
CUI: C0026499
Disease: Monosomy
Monosomy 		0.010 GeneticVariation BEFREE A GATA2 p.Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodys-plastic syndrome with monosomy 7. 22271902

2012