Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. 11091222

2000
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 10807541

2000
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 10094191

1999
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. 9929978

1999
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298

1999
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. 10210316

1999
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT Sequence variation in the Fanconi anemia gene FAA. 9371798

1997
dbSNP: rs374030577
rs374030577
FANCA
0.700 GeneticVariation UNIPROT Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. 9399890

1997