Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 GeneticVariation CLINVAR Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 24584348

2014
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 GeneticVariation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 GeneticVariation CLINVAR Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. 12697994

2002
dbSNP: rs755922289
rs755922289
FANCA
T 0.700 GeneticVariation CLINVAR The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. 11063725

2000