Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726

2013

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609

2005

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. 15523645

2004

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 12444097

2002

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA. 11739169

2001

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. 11091222

2000

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 10807541

2000

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 10807541

2000

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. 9929978

1999

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. 10210316

1999

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. 10090479

1999

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298

1999

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 10094191

1999

dbSNP: rs148473140
rs148473140
A 0.800 GeneticVariation CLINVAR Sequence variation in the Fanconi anemia gene FAA. 9371798

1997

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. 9399890

1997

dbSNP: rs148473140
rs148473140
0.800 GeneticVariation UNIPROT Sequence variation in the Fanconi anemia gene FAA. 9371798

1997