Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148473140
rs148473140
FANCA
A 0.700 CausalMutation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
dbSNP: rs148473140
rs148473140
FANCA
A 0.700 CausalMutation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs148473140
rs148473140
FANCA
A 0.700 CausalMutation CLINVAR Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. 15523645

2004