Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17233497
rs17233497
FANCA
0.710 GeneticVariation BEFREE Three of the amino acid changes, namely Thr561Met, Cys625Ser and particularly Ser1088Phe, which has been previously reported to be associated with FA, are predicted to be damaging by the SIFT and PolyPhen softwares. cDNA amplification revealed significant expression of 4 alternative splicing events (insertion of an intronic portion of intron 10, and the skipping of exons 11, 30 and 31). 23021409

2013
dbSNP: rs17233497
rs17233497
FANCA
0.710 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: rs17233497
rs17233497
FANCA
0.710 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008