Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1173704265
rs1173704265
FANCA
G 0.700 GeneticVariation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs1173704265
rs1173704265
FANCA
G 0.700 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs1173704265
rs1173704265
FANCA
G 0.700 GeneticVariation CLINVAR Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 12444097

2002
dbSNP: rs1173704265
rs1173704265
FANCA
G 0.700 GeneticVariation CLINVAR Sequence variation in the Fanconi anemia gene FAA. 9371798

1997