Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 CausalMutation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
dbSNP: rs755922289
rs755922289
FANCA
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: rs755922289
rs755922289
FANCA
T 0.700 CausalMutation CLINVAR Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. 24349332

2013
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 CausalMutation CLINVAR Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. 12697994

2002