Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769479800
rs769479800
FANCA
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: rs769479800
rs769479800
FANCA
G 0.700 CausalMutation CLINVAR Investigation of FANCA mutations in Greek patients. 23898106

2013
dbSNP: rs769479800
rs769479800
FANCA
G 0.700 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs769479800
rs769479800
FANCA
G 0.700 CausalMutation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609

2005
dbSNP: rs769479800
rs769479800
FANCA
G 0.700 CausalMutation CLINVAR A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. 16084127

2005
dbSNP: rs769479800
rs769479800
FANCA
G 0.700 CausalMutation CLINVAR The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. 10090479

1999