Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555538571
rs1555538571
FANCA
T 0.700 GeneticVariation 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: rs1555538571
rs1555538571
FANCA
T 0.700 GeneticVariation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304

2011
dbSNP: rs1555538571
rs1555538571
FANCA
T 0.700 GeneticVariation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609

2005