Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501879
rs1060501879
FANCA
T 0.700 CausalMutation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009
dbSNP: rs1060501879
rs1060501879
FANCA
T 0.700 CausalMutation CLINVAR Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. 15523645

2004
dbSNP: rs1060501879
rs1060501879
FANCA
T 0.700 CausalMutation CLINVAR Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 12444097

2002
dbSNP: rs1060501879
rs1060501879
FANCA
T 0.700 CausalMutation CLINVAR A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA. 11739169

2001
dbSNP: rs1060501879
rs1060501879
FANCA
T 0.700 CausalMutation CLINVAR The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. 10090479

1999