FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1278836130
rs1278836130
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742 2018