Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751266148
rs751266148
T 0.700 CausalMutation CLINVAR Profiling Fanconi Anemia Gene Mutations among Iranian Patients. 27041517

2016

dbSNP: rs751266148
rs751266148
T 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: rs751266148
rs751266148
T 0.700 CausalMutation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013