Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012

dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR Diagnosis of Fanconi anemia in patients with bone marrow failure. 19278965

2009

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009

dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009

dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008

dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609

2005

dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 12444097

2002

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. 11091222

2000

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 10807541

2000

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298

1999

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 10094191

1999

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. 9929978

1999

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. 10210316

1999

dbSNP: rs574034197
rs574034197
C 0.800 GeneticVariation CLINVAR Sequence variation in the Fanconi anemia gene FAA. 9371798

1997

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Sequence variation in the Fanconi anemia gene FAA. 9371798

1997

dbSNP: rs574034197
rs574034197
0.800 GeneticVariation UNIPROT Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. 9399890

1997