Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881710
rs730881710
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs730881710
rs730881710
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: rs730881710
rs730881710
T 0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212

1996

dbSNP: rs730881710
rs730881710
T 0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176

1993