Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 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: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304

2011
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609

2005