FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: Fanconi Anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1380850249
rs1380850249
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease:
Fanconi Anemia 		C 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008