Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745568821
rs745568821
FANCA
C 0.700 CausalMutation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs745568821
rs745568821
FANCA
C 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: rs745568821
rs745568821
FANCA
C 0.700 CausalMutation CLINVAR Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant. 12955722

2003
dbSNP: rs745568821
rs745568821
FANCA
C 0.700 CausalMutation CLINVAR Sequence variation in the Fanconi anemia gene FAA. 9371798

1997