Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609

2005
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. 9711872

1998