Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759877008
rs759877008
FANCA
T 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs759877008
rs759877008
FANCA
T 0.700 GeneticVariation CLINVAR DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. 25583207

2015
dbSNP: rs759877008
rs759877008
FANCA
T 0.700 GeneticVariation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304

2011
dbSNP: rs759877008
rs759877008
FANCA
T 0.700 GeneticVariation CLINVAR Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. 19423727

2009
dbSNP: rs759877008
rs759877008
FANCA
T 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs759877008
rs759877008
FANCA
T 0.700 GeneticVariation CLINVAR In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. 17726045

2007
dbSNP: rs759877008
rs759877008
FANCA
T 0.700 GeneticVariation CLINVAR Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 10094191

1999