rs878853666, FANCA

N. diseases: 4
Disease: Fanconi Anemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.010 GeneticVariation BEFREE Therefore, the hypomorphic Leu153Ser mutation represents the first example of a FANCD2 defect that might promote clonal progression of tumors, such as T-ALL, and severe chemotherapy toxicity in patients without any clinical manifestations typical of FA. 17096012 2007