Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507553
rs397507553
G 0.700 CausalMutation CLINVAR Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 24584348

2014

dbSNP: rs397507553
rs397507553
G 0.700 CausalMutation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009

dbSNP: rs397507553
rs397507553
G 0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008