Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783028
rs587783028
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
A 0.700 GeneticVariation CLINVAR A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing. 25953249 2015