rs147105770, ERCC4

N. diseases: 8
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 Detection of the novel splice site mutation c.793-2A > G and the previously described missense mutation c.1765C > T (p.Arg589Trp) in XPF/ERCC4/FANCQ assign her as the third individual of complementation group FA-Q. 29325523 2018